4157[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	AARS1, ACD +1738 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	AARS1, ACD +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC130059658, LOC130059659 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059719, LOC130059720 +1424 more	Copy number gain	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059720, LOC130059721 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	LOC130059461, LOC130059462 +1031 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059622, LOC130059623 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC130059744, LOC130059745 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	ACSF3, ADAD2 +781 more	Copy number gain	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	LINC01228, LINC01229 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	LOC101927817, LOC101927863 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	ACSF3, ADAD2 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	ACSF3, ADAD2 +670 more	Copy number gain	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	ACSF3, ADAD2 +566 more	Copy number gain	See cases	GPathogenic
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	ACSF3, ADAD2 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 150862	GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3	ACSF3, ANKRD11 +420 more	Copy number gain	See cases	GPathogenic
Select item 149103	GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3	ACSF3, ANKRD11 +268 more	Copy number gain	See cases	GLikely pathogenic
Select item 58651	GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3	BANP, ACSF3 +267 more	Copy number gain	See cases	GPathogenic
Select item 60065	GRCh38/hg38 16q24.3(chr16:89665706-90081985)x3	CDK10, CENPBD1 +68 more	Copy number gain	See cases	GUncertain significance
Select item 58271	GRCh38/hg38 16q24.3(chr16:89730086-90081985)x1	CENPBD1, DBNDD1 +51 more	Copy number loss	See cases	GUncertain significance
Select item 526504	NC_000016.10:g.(?_89761943)_(89920218_?)del	FANCA, LOC112486223 +18 more	Deletion	Fanconi anemia	GPathogenic
Select item 58272	GRCh38/hg38 16q24.3(chr16:89791645-90000807)x1	CENPBD1, DEF8 +30 more	Copy number loss	See cases	GUncertain significance
Select item 34317	GRCh38/hg38 16q24.3(chr16:89830573-90044855)x1	CENPBD1, DBNDD1 +30 more	Copy number loss	See cases	GUncertain significance
Select item 1265010	NC_000016.10:g.89917680_89917681del	MC1R	Deletion	not provided	GBenign
Select item 1287143	NC_000016.10:g.89917760C>A	MC1R	Single nucleotide variant	not provided	GBenign
Select item 884600	NM_002386.3(MC1R):c.-1371C>G	MC1R	Single nucleotide variant	Melanoma, cutaneous malignant, susceptibility to, 5	GBenign
Select item 321378	NM_002386.3(MC1R):c.-1307A>C	MC1R	Single nucleotide variant	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 321379	NM_002386.3(MC1R):c.-1297T>C	MC1R	Single nucleotide variant	not provided +1 more	GBenign
Select item 321380	NM_002386.3(MC1R):c.-1289C>T	MC1R	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 321381	NM_002386.3(MC1R):c.-1274G>C	MC1R	Single nucleotide variant	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 321382	NM_002386.3(MC1R):c.-1263G>A	MC1R	Single nucleotide variant	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 321383	NM_002386.3(MC1R):c.-1251C>T	MC1R	Single nucleotide variant	Melanoma, cutaneous malignant, susceptibility to, 5	GBenign
Select item 885534	NM_002386.3(MC1R):c.-1243G>A	MC1R	Single nucleotide variant	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 321384	NM_002386.3(MC1R):c.-1235A>T	MC1R	Single nucleotide variant	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 321385	NM_002386.3(MC1R):c.-1234C>T	MC1R	Single nucleotide variant	Melanoma, cutaneous malignant, susceptibility to, 5	GBenign
Select item 886557	NM_002386.3(MC1R):c.-1230C>T	MC1R	Single nucleotide variant	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 321386	NM_002386.3(MC1R):c.-1209C>T	MC1R	Single nucleotide variant (genic downstream transcript variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 321387	NM_002386.3(MC1R):c.-1177G>C	MC1R	Single nucleotide variant (genic downstream transcript variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 1695509	NC_000016.10:g.89918089C>G	MC1R	Single nucleotide variant	not provided	GLikely benign
Select item 886558	NM_002386.3(MC1R):c.-1157A>C	MC1R	Single nucleotide variant (genic downstream transcript variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 886559	NM_002386.3(MC1R):c.-1143C>T	MC1R	Single nucleotide variant (genic downstream transcript variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 321388	NM_002386.3(MC1R):c.-1142G>A	MC1R	Single nucleotide variant (genic downstream transcript variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 886560	NM_002386.3(MC1R):c.-1125C>T	MC1R	Single nucleotide variant (genic downstream transcript variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 887812	NM_002386.3(MC1R):c.-1098C>T	MC1R	Single nucleotide variant (genic downstream transcript variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 887813	NM_002386.3(MC1R):c.-1092G>A	MC1R	Single nucleotide variant (genic downstream transcript variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GBenign
Select item 321389	NM_002386.3(MC1R):c.-1063T>C	MC1R	Single nucleotide variant (genic downstream transcript variant)	not provided +1 more	GBenign
Select item 887814	NM_002386.3(MC1R):c.-1016C>G	MC1R	Single nucleotide variant (genic downstream transcript variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GBenign
Select item 321390	NM_002386.3(MC1R):c.-1006G>T	MC1R	Single nucleotide variant (genic downstream transcript variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 321391	NM_002386.3(MC1R):c.-1000G>C	MC1R	Single nucleotide variant (genic downstream transcript variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 321392	NM_002386.3(MC1R):c.-988A>C	MC1R	Single nucleotide variant (genic downstream transcript variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 321393	NM_002386.3(MC1R):c.-975G>A	MC1R	Single nucleotide variant (genic downstream transcript variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 884661	NM_002386.3(MC1R):c.-966C>T	MC1R	Single nucleotide variant (genic downstream transcript variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 884662	NM_002386.3(MC1R):c.-952C>T	MC1R	Single nucleotide variant (genic downstream transcript variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 884663	NM_002386.3(MC1R):c.-951G>A	MC1R	Single nucleotide variant (genic downstream transcript variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 321394	NM_002386.3(MC1R):c.-928A>G	MC1R	Single nucleotide variant (genic downstream transcript variant)	not provided +1 more	GBenign
Select item 321395	NM_002386.3(MC1R):c.-909A>G	MC1R	Single nucleotide variant (genic downstream transcript variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 884664	NM_002386.3(MC1R):c.-784A>G	MC1R	Single nucleotide variant (genic downstream transcript variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 321396	NM_002386.3(MC1R):c.-723T>C	MC1R	Single nucleotide variant (genic downstream transcript variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 885605	NM_002386.3(MC1R):c.-722G>C	MC1R	Single nucleotide variant (genic downstream transcript variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 321397	NM_002386.3(MC1R):c.-600C>T	MC1R	Single nucleotide variant (genic downstream transcript variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 885606	NM_002386.3(MC1R):c.-567C>T	MC1R	Single nucleotide variant (genic downstream transcript variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 321398	NM_002386.3(MC1R):c.-550G>A	MC1R	Single nucleotide variant (genic downstream transcript variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GLikely benign
Select item 321399	NM_002386.3(MC1R):c.-536C>T	MC1R	Single nucleotide variant (genic downstream transcript variant)	not provided +1 more	GBenign
Select item 321400	NM_002386.3(MC1R):c.-535G>A	MC1R	Single nucleotide variant (genic downstream transcript variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GBenign
Select item 321401	NM_002386.3(MC1R):c.-508C>T	MC1R	Single nucleotide variant (genic downstream transcript variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 886626	NM_002386.3(MC1R):c.-504G>A	MC1R	Single nucleotide variant (genic downstream transcript variant)	Melanoma, cutaneous malignant, susceptibility to, 5 +1 more	GUncertain significance
Select item 321402	NM_002386.3(MC1R):c.-490C>T	MC1R	Single nucleotide variant (genic downstream transcript variant)	not provided +1 more	GBenign
Select item 321403	NM_002386.3(MC1R):c.-465C>G	MC1R	Single nucleotide variant (genic downstream transcript variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 886627	NM_002386.3(MC1R):c.-450C>T	MC1R	Single nucleotide variant (genic downstream transcript variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GBenign
Select item 321404	NM_002386.3(MC1R):c.-445G>A	MC1R	Single nucleotide variant (genic downstream transcript variant)	not provided +1 more	GBenign
Select item 321405	NM_002386.4(MC1R):c.-374G>A	MC1R	Single nucleotide variant (5 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GBenign
Select item 321406	NM_002386.4(MC1R):c.-356A>G	MC1R	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 887874	NM_002386.4(MC1R):c.-350C>G	MC1R	Single nucleotide variant (5 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 887875	NM_002386.4(MC1R):c.-344C>T	MC1R	Single nucleotide variant (5 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 321407	NM_002386.4(MC1R):c.-338C>T	MC1R	Single nucleotide variant (5 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 321408	NM_002386.4(MC1R):c.-323G>A	MC1R	Single nucleotide variant (5 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GBenign
Select item 321409	NM_002386.4(MC1R):c.-312_-310del	MC1R	Deletion (5 prime UTR variant)	Malignant Melanoma Susceptibility	GUncertain significance
Select item 321410	NM_002386.4(MC1R):c.-273G>C	MC1R	Single nucleotide variant (5 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 321411	NM_002386.4(MC1R):c.-226A>T	MC1R	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 321412	NM_002386.4(MC1R):c.-114G>A	MC1R	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 321413	NM_002386.4(MC1R):c.-110A>C	MC1R	Single nucleotide variant (5 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 5 +1 more	GUncertain significance
Select item 321414	NM_002386.4(MC1R):c.-101G>T	MC1R	Single nucleotide variant (5 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 321415	NM_002386.4(MC1R):c.-98C>G	MC1R	Single nucleotide variant (5 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 321416	NM_002386.4(MC1R):c.-32dup	MC1R	Duplication (5 prime UTR variant)	Malignant Melanoma Susceptibility	GLikely benign
Select item 2872328	NM_002386.4(MC1R):c.-11_19del (p.Met1_Gln7del)	MC1R	Deletion (inframe_deletion +1 more)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 884725	NM_002386.4(MC1R):c.-13C>T	MC1R	Single nucleotide variant (5 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GBenign
Select item 2296009	NM_002386.4(MC1R):c.4G>T (p.Ala2Ser)	MC1R (A2S)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5 +1 more	GUncertain significance
Select item 3871061	NM_002386.4(MC1R):c.6T>C (p.Ala2=)	MC1R	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1017545	NM_002386.4(MC1R):c.7G>A (p.Val3Met)	MC1R (V3M)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 966431	NM_002386.4(MC1R):c.10C>T (p.Gln4Ter)	MC1R (Q4*)	Single nucleotide variant (nonsense)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 1904024	NM_002386.4(MC1R):c.11A>T (p.Gln4Leu)	MC1R (Q4L)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 3871070	NM_002386.4(MC1R):c.14G>A (p.Gly5Glu)	MC1R (G5E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3543997	NM_002386.4(MC1R):c.18C>T (p.Ser6=)	MC1R	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 406215	NM_002386.4(MC1R):c.20A>G (p.Gln7Arg)	MC1R (Q7R)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2018623	NM_002386.4(MC1R):c.22AGA[1] (p.Arg9del)	MC1R (R9del)	Microsatellite (inframe_deletion)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 835127	NM_002386.4(MC1R):c.23G>A (p.Arg8Lys)	MC1R (R8K)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5 +1 more	GConflicting classifications of pathogenicity
Select item 2881540	NM_002386.4(MC1R):c.30_46del (p.Leu11fs)	MC1R (L11fs)	Deletion (frameshift variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 3871144	NM_002386.4(MC1R):c.31C>A (p.Leu11Met)	MC1R (L11M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3871114	NM_002386.4(MC1R):c.32T>G (p.Leu11Arg)	MC1R (L11R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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