SREK1[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LINC02219, LINC02229 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 146335	GRCh38/hg38 5q12.1-13.2(chr5:63207112-71291191)x3	ADAMTS6, AK6 +139 more	Copy number gain	See cases	GLikely pathogenic
Select item 57512	GRCh38/hg38 5q12.3-13.2(chr5:64932763-69495504)x1	ADAMTS6, AK6 +115 more	Copy number loss	See cases	GPathogenic
Select item 146452	GRCh38/hg38 5q12.3(chr5:65211728-66746761)x3	ADAMTS6, CENPK +41 more	Copy number gain	See cases	GUncertain significance
Select item 151651	GRCh38/hg38 5q12.3(chr5:65413763-66430722)x1	ADAMTS6, CENPK +28 more	Copy number loss	See cases	GLikely pathogenic
Select item 154729	GRCh38/hg38 5q12.3-13.2(chr5:65976124-71317474)x3	AK6, CCDC125 +101 more	Copy number gain	See cases	GUncertain significance
Select item 3169943	NM_001077199.3(SREK1):c.49C>T (p.Pro17Ser)	LOC129993983, SREK1 (P17S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169937	NM_001077199.3(SREK1):c.146G>A (p.Arg49Gln)	LOC129993983, SREK1 (R49Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236556	NM_001077199.3(SREK1):c.394C>T (p.Pro132Ser)	SREK1 (P132S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169942	NM_001077199.3(SREK1):c.421T>A (p.Ser141Thr)	SREK1 (S141T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535248	NM_001077199.3(SREK1):c.581C>T (p.Thr194Met)	SREK1 (T194M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533418	NM_001077199.3(SREK1):c.893G>A (p.Gly298Glu)	SREK1 (G182E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169945	NM_001077199.3(SREK1):c.922T>A (p.Ser308Thr)	SREK1 (S308T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611970	NM_001077199.3(SREK1):c.926G>A (p.Arg309His)	SREK1 (R193H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362704	NM_001077199.3(SREK1):c.990A>C (p.Gln330His)	SREK1 (Q214H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169932	NM_001077199.3(SREK1):c.1072C>T (p.Arg358Cys)	SREK1 (R93C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533304	NM_001077199.3(SREK1):c.1213C>T (p.Arg405Cys)	SREK1 (R405C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169934	NM_001077199.3(SREK1):c.1231C>T (p.Arg411Trp)	SREK1 (R146W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211145	NM_001077199.3(SREK1):c.1250G>A (p.Arg417Gln)	SREK1 (R301Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605107	NM_001077199.3(SREK1):c.1292A>G (p.Lys431Arg)	SREK1 (K166R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241062	NM_001077199.3(SREK1):c.1309C>T (p.Arg437Trp)	SREK1 (R172W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169935	NM_001077199.3(SREK1):c.1321C>T (p.His441Tyr)	SREK1 (H176Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169936	NM_001077199.3(SREK1):c.1382A>G (p.Lys461Arg)	SREK1 (K461R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621785	NM_001077199.3(SREK1):c.1472G>C (p.Arg491Pro)	SREK1 (R375P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169938	NM_001077199.3(SREK1):c.1511G>C (p.Ser504Thr)	SREK1 (S388T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339180	NM_001077199.3(SREK1):c.1561A>G (p.Arg521Gly)	SREK1 (R405G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598029	NM_001077199.3(SREK1):c.1670G>A (p.Ser557Asn)	SREK1 (S292N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169940	NM_001077199.3(SREK1):c.1734G>C (p.Glu578Asp)	SREK1 (E312D +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458402	NM_001077199.3(SREK1):c.1789C>T (p.Pro597Ser)	SREK1 (P331S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169941	NM_001077199.3(SREK1):c.1793G>C (p.Arg598Thr)	SREK1 (R481T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148880	GRCh37/hg19 5q12.3-13.2(chr5:64364710-72835471)x1	ADAMTS6, CDK7 +40 more	Copy number loss	See cases	GPathogenic
Select item 3062872	GRCh37/hg19 5q12.3(chr5:64936781-65838741)x1	ERBIN, NLN +3 more	Copy number loss	not specified	GUncertain significance
Select item 3062830	GRCh37/hg19 5q12.3(chr5:65270346-65471972)x1	ERBIN, SREK1	Copy number loss	not specified	GUncertain significance
Select item 3024635	GRCh37/hg19 5q12.3-13.1(chr5:64111112-67101123)x1	ADAMTS6, CD180 +10 more	Copy number loss	not provided	GPathogenic
Select item 2671624	Single allele	ADAMTS6, CD180 +16 more	Deletion	not provided	GUncertain significance
Select item 1808443	GRCh37/hg19 5q12.3(chr5:65445482-65714525)x1	SREK1	Copy number loss	not provided	GUncertain significance
Select item 1527167	GRCh37/hg19 5q12.3-13.2(chr5:64049692-70306646)	ADAMTS6, CCDC125 +28 more	Copy number loss	not specified	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563075	GRCh37/hg19 5q12.3-13.2(chr5:65315606-68755816)x1	CD180, RAD17 +12 more	Copy number loss	not provided	GLikely pathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 442344	GRCh37/hg19 5q12.1-13.2(chr5:58966132-68847066)x4	ADAMTS6, CCDC125 +39 more	Copy number gain	See cases	GLikely pathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic

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Items: 44