SCRN2[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 145638	GRCh38/hg38 17q21.32(chr17:47686487-47986961)x1	CDK5RAP3, LOC109286563 +26 more	Copy number loss	See cases	GUncertain significance
Select item 2391151	NM_138355.4(SCRN2):c.1232G>A (p.Ser411Asn)	SCRN2 (S411N)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2370975	NM_138355.4(SCRN2):c.1201G>A (p.Glu401Lys)	SCRN2 (E401K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2281629	NM_138355.4(SCRN2):c.1198G>A (p.Gly400Ser)	SCRN2 (G400S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2458748	NM_138355.4(SCRN2):c.1180A>G (p.Thr394Ala)	SCRN2 (T394A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2269377	NM_138355.4(SCRN2):c.1174G>C (p.Glu392Gln)	SCRN2 (E392Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3158710	NM_138355.4(SCRN2):c.1135C>G (p.Leu379Val)	SCRN2 (L379V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2559505	NM_138355.4(SCRN2):c.1063C>T (p.Arg355Trp)	SCRN2 (R355W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158709	NM_138355.4(SCRN2):c.1040G>C (p.Arg347Pro)	SCRN2 (R347P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511323	NM_138355.4(SCRN2):c.1040G>A (p.Arg347Gln)	SCRN2 (R347Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316699	NM_138355.4(SCRN2):c.897G>C (p.Gln299His)	SCRN2 (Q299H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158716	NM_138355.4(SCRN2):c.886G>T (p.Asp296Tyr)	SCRN2 (D296Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316004	NM_138355.4(SCRN2):c.853A>G (p.Thr285Ala)	SCRN2 (T285A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359395	NM_138355.4(SCRN2):c.839C>T (p.Ser280Leu)	SCRN2 (S280L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158715	NM_138355.4(SCRN2):c.830G>A (p.Cys277Tyr)	SCRN2 (C277Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516640	NM_138355.4(SCRN2):c.766C>T (p.Arg256Trp)	SCRN2 (R256W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2512272	NM_138355.4(SCRN2):c.749G>A (p.Arg250Gln)	SCRN2 (R250Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3158714	NM_138355.4(SCRN2):c.733C>T (p.Arg245Cys)	SCRN2 (R245C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316701	NM_138355.4(SCRN2):c.713G>A (p.Arg238His)	SCRN2 (R238H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261199	NM_138355.4(SCRN2):c.706C>G (p.Pro236Ala)	SCRN2 (P236A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158713	NM_138355.4(SCRN2):c.705G>T (p.Gln235His)	SCRN2 (Q235H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270279	NM_138355.4(SCRN2):c.690C>G (p.Phe230Leu)	SCRN2 (F230L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220072	NM_138355.4(SCRN2):c.646G>A (p.Gly216Ser)	SCRN2 (G216S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228529	NM_138355.4(SCRN2):c.605C>T (p.Ser202Leu)	SCRN2 (S202L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380349	NM_138355.4(SCRN2):c.593G>A (p.Gly198Asp)	SCRN2 (G198D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286953	NM_138355.4(SCRN2):c.566G>A (p.Arg189His)	SCRN2 (R189H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261059	NM_138355.4(SCRN2):c.523G>T (p.Ala175Ser)	SCRN2 (A175S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276388	NM_138355.4(SCRN2):c.476G>T (p.Ser159Ile)	SCRN2 (S159I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212564	NM_138355.4(SCRN2):c.473A>G (p.His158Arg)	SCRN2 (H158R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316700	NM_138355.4(SCRN2):c.469T>C (p.Tyr157His)	SCRN2 (Y157H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316702	NM_138355.4(SCRN2):c.458C>T (p.Ala153Val)	SCRN2 (A153V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313374	NM_138355.4(SCRN2):c.425A>G (p.Tyr142Cys)	SCRN2 (Y142C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218759	NM_138355.4(SCRN2):c.370C>T (p.Arg124Trp)	SCRN2 (R124W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305874	NM_138355.4(SCRN2):c.352C>T (p.Leu118Phe)	SCRN2 (L118F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158712	NM_138355.4(SCRN2):c.322G>A (p.Glu108Lys)	SCRN2 (E108K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615277	NM_138355.4(SCRN2):c.316G>T (p.Val106Phe)	SCRN2 (V106F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158711	NM_138355.4(SCRN2):c.193G>A (p.Glu65Lys)	SCRN2 (E65K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389106	NM_138355.4(SCRN2):c.185T>C (p.Ile62Thr)	SCRN2 (I62T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297104	NM_138355.4(SCRN2):c.178A>G (p.Thr60Ala)	SCRN2 (T60A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215982	NM_138355.4(SCRN2):c.160G>C (p.Gly54Arg)	SCRN2 (G54R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316703	NM_138355.4(SCRN2):c.25C>G (p.Pro9Ala)	SCRN2 (P9A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349181	NM_138355.4(SCRN2):c.5C>T (p.Ala2Val)	SCRN2 (A2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242218	Single allele	KIF18B, LPO +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2506553	GRCh37/hg19 17q21.32(chr17:44949883-46507482)	CBX1, CDC27 +24 more	Copy number gain	PNPO-related disorder	GLikely pathogenic
Select item 564451	GRCh37/hg19 17q21.32(chr17:45884442-46124946)x3	PRR15L, SP6 +9 more	Copy number gain	not provided	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 221347	chr17:45008570..45994044 complex variant	CDC27, EFCAB13 +14 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 52