SNX9[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997469, LOC129997470 +1002 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	ACAT2, ADAT2 +865 more	Copy number gain	See cases	GPathogenic
Select item 2663766	NC_000006.12:g.(?_150381239)_(159553952_?)del	LOC129997480, LOC129997522 +288 more	Deletion	Chromosome 6q24-q25 deletion syndrome	GPathogenic
Select item 150766	GRCh38/hg38 6q25.1-25.3(chr6:150381239-159553952)x1	LOC115308161, LOC116183076 +288 more	Copy number loss	See cases	GPathogenic
Select item 2579284	GRCh38/hg38 6q25.1-25.3(chr6:150905553-158511926)x1	AKAP12, ARID1B +208 more	Copy number loss	Coffin-Siris syndrome 1	GPathogenic
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	ACAT2, AFDN +571 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	LOC129997593, LOC129997594 +563 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	LOC129997707, LOC129997708 +548 more	Copy number loss	See cases	GPathogenic
Select item 145547	GRCh38/hg38 6q25.2-25.3(chr6:154178964-159020369)x1	TMEM242, TMEM242-DT +188 more	Copy number loss	See cases	GLikely pathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	LOC126859906, LOC126859907 +539 more	Copy number loss	See cases	GPathogenic
Select item 148765	GRCh38/hg38 6q25.3-26(chr6:155378049-163133499)x1	LOC126859863, LOC126859864 +270 more	Copy number loss	See cases	GPathogenic
Select item 58157	GRCh38/hg38 6q25.3(chr6:157827805-159726548)x3	DYNLT1, EZR +100 more	Copy number gain	See cases	GPathogenic
Select item 2328724	NM_016224.5(SNX9):c.94A>G (p.Asn32Asp)	SNX9 (N32D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410052	NM_016224.5(SNX9):c.305G>A (p.Gly102Asp)	SNX9 (G102D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 755909	NM_016224.5(SNX9):c.486T>C (p.Asp162=)	SNX9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2285344	NM_016224.5(SNX9):c.508G>T (p.Asp170Tyr)	SNX9 (D170Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547071	NM_016224.5(SNX9):c.523T>A (p.Ser175Thr)	SNX9 (S175T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 790318	NM_016224.5(SNX9):c.538G>A (p.Asp180Asn)	SNX9 (D180N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2285035	NM_016224.5(SNX9):c.698C>T (p.Pro233Leu)	SNX9 (P233L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475537	NM_016224.5(SNX9):c.745A>C (p.Thr249Pro)	SNX9 (T249P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337962	NM_016224.5(SNX9):c.879A>T (p.Leu293Phe)	SNX9 (L293F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483005	NM_016224.5(SNX9):c.907T>C (p.Ser303Pro)	SNX9 (S303P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 742459	NM_016224.5(SNX9):c.950-9C>T	SNX9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2558397	NM_016224.5(SNX9):c.1064A>T (p.Asn355Ile)	SNX9 (N355I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608227	NM_016224.5(SNX9):c.1361A>C (p.Tyr454Ser)	SNX9 (Y454S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 774072	NM_016224.5(SNX9):c.1443+8C>T	SNX9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2259225	NM_016224.5(SNX9):c.1538C>G (p.Ala513Gly)	SNX9 (A513G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620664	NM_016224.5(SNX9):c.1679T>C (p.Ile560Thr)	SNX9 (I560T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1708184	GRCh37/hg19 6q25.3-27(chr6:157318401-165233548)x1	MAS1, MRPL18 +33 more	Copy number loss	See cases	GPathogenic
Select item 1527310	GRCh37/hg19 6q25.3(chr6:155525920-159889169)	ARID1B, CLDN20 +18 more	Copy number loss	not specified	GPathogenic
Select item 1527309	GRCh37/hg19 6q25.2-25.3(chr6:153647248-158255989)	ARID1B, CLDN20 +10 more	Copy number loss	not specified	GPathogenic
Select item 1527308	GRCh37/hg19 6q25.2-26(chr6:153207930-164322346)	ACAT2, AGPAT4 +44 more	Copy number loss	not specified	GPathogenic
Select item 1047882	GRCh37/hg19 6q25.2-25.3(chr6:155308263-158394005)	ARID1B, CLDN20 +6 more	Copy number loss	Corpus callosum, agenesis of +3 more	GPathogenic
Select item 687358	GRCh37/hg19 6q25.3(chr6:157262571-160992289)x3	ACAT2, AIRN +27 more	Copy number gain	not provided	GUncertain significance
Select item 685788	GRCh37/hg19 6q24.3-25.3(chr6:148195086-160127254)x3	AKAP12, ARID1B +58 more	Copy number gain	not provided	GPathogenic
Select item 685045	GRCh37/hg19 6q25.2-25.3(chr6:155426680-158863541)x3	TIAM2, TMEM242 +10 more	Copy number gain	not provided	GUncertain significance
Select item 561258	46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn	FNDC1, FRMD1 +86 more	Complex	Coffin-Siris syndrome 1	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 394997	GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3	ACAT2, AFDN +87 more	Copy number gain	See cases	GPathogenic
Select item 242863	Single allele	TMEM242, ZDHHC14 +2 more	Deletion	Long eyelashes +5 more	GPathogenic

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Items: 41