17847[HGNC] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 2410080	NM_007271.4(STK38):c.1304A>G (p.Asn435Ser)	STK38 (N435S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285779	NM_007271.4(STK38):c.1195A>G (p.Ile399Val)	STK38 (I399V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708434	NM_007271.4(STK38):c.1164A>G (p.Glu388=)	STK38	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2365698	NM_007271.4(STK38):c.1153G>A (p.Val385Ile)	STK38 (V385I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478657	NM_007271.4(STK38):c.1039G>A (p.Val347Ile)	STK38 (V347I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277642	NM_007271.4(STK38):c.1031C>T (p.Pro344Leu)	STK38 (P344L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171416	NM_007271.4(STK38):c.868G>T (p.Ala290Ser)	STK38 (A290S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323340	NM_007271.4(STK38):c.838T>C (p.Phe280Leu)	STK38 (F280L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171415	NM_007271.4(STK38):c.742A>T (p.Asn248Tyr)	STK38 (N248Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570035	NM_007271.4(STK38):c.637A>G (p.Ile213Val)	STK38 (I213V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2627992	NM_007271.4(STK38):c.630_631del (p.His210fs)	STK38 (H210fs)	Microsatellite (frameshift variant)	Bladder exstrophy-epispadias-cloacal extrophy complex	GUncertain significance
Select item 2458248	NM_007271.4(STK38):c.616C>G (p.Leu206Val)	STK38 (L206V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279640	NM_007271.4(STK38):c.605C>G (p.Ser202Cys)	STK38 (S202C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360738	NM_007271.4(STK38):c.577A>G (p.Ile193Val)	STK38 (I193V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171414	NM_007271.4(STK38):c.531G>T (p.Leu177Phe)	STK38 (L177F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171413	NM_007271.4(STK38):c.461A>G (p.Tyr154Cys)	STK38 (Y154C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621532	NM_007271.4(STK38):c.361C>T (p.Arg121Cys)	STK38 (R121C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612376	NM_007271.4(STK38):c.316G>C (p.Val106Leu)	STK38 (V106L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720945	NM_007271.4(STK38):c.241A>C (p.Arg81=)	STK38	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 689595	NM_007271.4(STK38):c.222dup (p.Glu75fs)	STK38 (E75fs)	Duplication (frameshift variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 3246250	NC_000006.11:g.(?_35773448)_(36953949_?)del	BRPF3, BNIP5 +18 more	Deletion	not provided	GPathogenic
Select item 2685202	GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1	BNIP5, APOBEC2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ARMC12, BRPF3 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 997072	GRCh37/hg19 6p21.31-21.2(chr6:34401304-38435497)	ANKS1A, ARMC12 +49 more	Copy number loss	Severe intrauterine growth retardation	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 563171	GRCh37/hg19 6p21.31-21.2(chr6:34683518-36905281)x3	UHRF1BP1, SRSF3 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 30