NTN1[gene] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	LOC130060143, LOC130060144 +963 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR6883, MIR744 +923 more	Copy number gain	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	LOC126862500, LOC126862501 +461 more	Copy number gain	See cases	GPathogenic
Select item 145849	GRCh38/hg38 17p13.1(chr17:8898174-9088908)x3	LOC130060268, LOC130060269 +16 more	Copy number gain	See cases	GLikely benign
Select item 2569431	NM_004822.3(NTN1):c.46G>T (p.Ala16Ser)	NTN1 (A16S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3030655	NM_004822.3(NTN1):c.117T>C (p.Asp39=)	NTN1	Single nucleotide variant (synonymous variant)	NTN1-related condition	GLikely benign
Select item 3049358	NM_004822.3(NTN1):c.120C>T (p.Pro40=)	NTN1	Single nucleotide variant (synonymous variant)	NTN1-related condition	GLikely benign
Select item 3033729	NM_004822.3(NTN1):c.219C>T (p.Pro73=)	NTN1	Single nucleotide variant (synonymous variant)	NTN1-related condition	GLikely benign
Select item 3044622	NM_004822.3(NTN1):c.342G>T (p.Pro114=)	NTN1	Single nucleotide variant (synonymous variant)	NTN1-related condition	GBenign
Select item 2489544	NM_004822.3(NTN1):c.361C>A (p.Gln121Lys)	NTN1 (Q121K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411008	NM_004822.3(NTN1):c.371A>C (p.Asn124Thr)	NTN1 (N124T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588589	NM_004822.3(NTN1):c.384C>G (p.Phe128Leu)	NTN1 (F128L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1684967	NM_004822.3(NTN1):c.486C>G (p.Tyr162Ter)	NTN1 (Y162*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 2647463	NM_004822.3(NTN1):c.519C>T (p.Pro173=)	NTN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2602918	NM_004822.3(NTN1):c.520T>C (p.Phe174Leu)	NTN1 (F174L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548992	NM_004822.3(NTN1):c.536C>T (p.Thr179Met)	NTN1 (T179M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594064	NM_004822.3(NTN1):c.557A>G (p.Asn186Ser)	NTN1 (N186S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367806	NM_004822.3(NTN1):c.611C>G (p.Thr204Ser)	NTN1 (T204S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3035692	NM_004822.3(NTN1):c.628A>G (p.Met210Val)	NTN1 (M210V)	Single nucleotide variant (missense variant)	NTN1-related condition	GLikely benign
Select item 3047486	NM_004822.3(NTN1):c.631C>A (p.Arg211Ser)	NTN1 (R211S)	Single nucleotide variant (missense variant)	NTN1-related condition	GLikely benign
Select item 2310497	NM_004822.3(NTN1):c.635C>T (p.Pro212Leu)	NTN1 (P212L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2575902	NM_004822.3(NTN1):c.725T>C (p.Val242Ala)	NTN1 (V242A)	Single nucleotide variant (missense variant)	Orofacial cleft 1	GUncertain significance
Select item 2633488	NM_004822.3(NTN1):c.730G>A (p.Ala244Thr)	NTN1 (A244T)	Single nucleotide variant (missense variant)	NTN1-related condition	GUncertain significance
Select item 3033710	NM_004822.3(NTN1):c.732C>G (p.Ala244=)	NTN1	Single nucleotide variant (synonymous variant)	NTN1-related condition	GLikely benign
Select item 2548458	NM_004822.3(NTN1):c.745G>T (p.Val249Leu)	NTN1 (V249L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268126	NM_004822.3(NTN1):c.754A>T (p.Ser252Cys)	NTN1 (S252C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1175905	NM_004822.3(NTN1):c.771C>T (p.Phe257=)	NTN1	Single nucleotide variant (synonymous variant)	NTN1-related condition +1 more	GLikely benign
Select item 2408872	NM_004822.3(NTN1):c.777C>G (p.Asp259Glu)	NTN1 (D259E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273815	NM_004822.3(NTN1):c.878G>A (p.Arg293His)	NTN1 (R293H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391146	NM_004822.3(NTN1):c.914A>T (p.Asp305Val)	NTN1 (D305V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3050473	NM_004822.3(NTN1):c.921G>A (p.Arg307=)	NTN1	Single nucleotide variant (synonymous variant)	NTN1-related condition	GLikely benign
Select item 2633474	NM_004822.3(NTN1):c.926del (p.Asn309fs)	NTN1 (N309fs)	Deletion (frameshift variant)	NTN1-related condition	GUncertain significance
Select item 3037488	NM_004822.3(NTN1):c.933C>T (p.Ala311=)	NTN1	Single nucleotide variant (synonymous variant)	NTN1-related condition	GBenign
Select item 692209	NM_004822.3(NTN1):c.1018+5374C>T	NTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3049861	NM_004822.3(NTN1):c.1019-7C>A	NTN1	Single nucleotide variant (intron variant)	NTN1-related condition	GLikely benign
Select item 2485040	NM_004822.3(NTN1):c.1039G>T (p.Ala347Ser)	NTN1 (A347S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3056655	NM_004822.3(NTN1):c.1137C>T (p.His379=)	NTN1	Single nucleotide variant (synonymous variant)	NTN1-related condition	GBenign
Select item 3060350	NM_004822.3(NTN1):c.1143T>C (p.His381=)	NTN1	Single nucleotide variant (synonymous variant)	NTN1-related condition	GBenign
Select item 3043907	NM_004822.3(NTN1):c.1284C>T (p.Gly428=)	NTN1	Single nucleotide variant (synonymous variant)	NTN1-related condition	GBenign
Select item 2482568	NM_004822.3(NTN1):c.1298C>T (p.Thr433Ile)	NTN1 (T433I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2635897	NM_004822.3(NTN1):c.1312G>A (p.Ala438Thr)	NTN1 (A438T)	Single nucleotide variant (missense variant)	NTN1-related condition	GUncertain significance
Select item 2617074	NM_004822.3(NTN1):c.1352G>A (p.Cys451Tyr)	NTN1 (C451Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3035969	NM_004822.3(NTN1):c.1377G>A (p.Pro459=)	NTN1	Single nucleotide variant (synonymous variant)	NTN1-related condition	GLikely benign
Select item 2596537	NM_004822.3(NTN1):c.1382C>T (p.Thr461Ile)	NTN1 (T461I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596538	NM_004822.3(NTN1):c.1396G>A (p.Val466Met)	NTN1 (V466M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2070564	NM_004822.3(NTN1):c.1412-5T>A	NTN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3049728	NM_004822.3(NTN1):c.1416C>T (p.Cys472=)	NTN1	Single nucleotide variant (synonymous variant)	NTN1-related condition	GLikely benign
Select item 2548137	NM_004822.3(NTN1):c.1417G>A (p.Asp473Asn)	NTN1 (D473N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260125	NM_004822.3(NTN1):c.1489G>A (p.Val497Ile)	NTN1 (V497I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244147	NM_004822.3(NTN1):c.1520C>T (p.Ala507Val)	NTN1 (A507V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 599325	NM_004822.3(NTN1):c.1549ATC[1] (p.Ile518del)	NTN1 (I518del)	Microsatellite (inframe_deletion)	Mirror movements 4	GPathogenic
Select item 3058362	NM_004822.3(NTN1):c.1559T>C (p.Val520Ala)	NTN1 (V520A)	Single nucleotide variant (missense variant)	NTN1-related condition	GUncertain significance
Select item 2534361	NM_004822.3(NTN1):c.1573A>G (p.Thr525Ala)	NTN1 (T525A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534362	NM_004822.3(NTN1):c.1601G>A (p.Ser534Asn)	NTN1 (S534N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2647464	NM_004822.3(NTN1):c.1611C>T (p.Ile537=)	NTN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3043331	NM_004822.3(NTN1):c.1650G>A (p.Lys550=)	NTN1	Single nucleotide variant (synonymous variant)	NTN1-related condition	GLikely benign
Select item 3068079	NM_004822.3(NTN1):c.1789AAG[1] (p.Lys598del)	NTN1 (K598del)	Microsatellite (inframe_deletion)	Mirror movements 4	GUncertain significance
Select item 599324	NM_004822.3(NTN1):c.1801T>C (p.Cys601Arg)	NTN1 (C601R)	Single nucleotide variant (missense variant)	Mirror movements 4	GPathogenic
Select item 599326	NM_004822.3(NTN1):c.1802G>C (p.Cys601Ser)	NTN1 (C601S)	Single nucleotide variant (missense variant)	Mirror movements 4	GPathogenic
Select item 3041848	NM_004822.3(NTN1):c.1809G>A (p.Lys603=)	NTN1	Single nucleotide variant (synonymous variant)	NTN1-related condition	GLikely benign
Select item 2510664	NM_004822.3(NTN1):c.1810G>A (p.Ala604Thr)	NTN1 (A604T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3030236	NM_004822.3(NTN1):c.1815G>A (p.Ter605=)	NTN1	Single nucleotide variant (synonymous variant)	NTN1-related condition	GLikely benign
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 1526569	GRCh37/hg19 17p13.1(chr17:7929776-9995862)	ALOX12B, ALOX15B +36 more	Copy number gain	not specified	GUncertain significance
Select item 1340147	GRCh37/hg19 17p13.1(chr17:9109407-9395912)x3	NTN1, STX8	Copy number gain	not provided	GLikely benign
Select item 687671	GRCh37/hg19 17p13.1(chr17:9114823-9401836)x3	NTN1, STX8	Copy number gain	not provided	GUncertain significance
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 442648	GRCh37/hg19 17p13.1(chr17:7431013-9868179)x3	ALOX12B, ALOX15B +61 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic

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Items: 72