LOC123477751[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC123477761 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 59451	GRCh38/hg38 4q13.1-13.3(chr4:65454562-72313693)x1	LOC129992665, LOC129992666 +103 more	Copy number loss	See cases	GPathogenic
Select item 57351	GRCh38/hg38 4q13.2(chr4:65873016-68743024)x3	CENPC, GNRHR +32 more	Copy number gain	See cases	GUncertain significance
Select item 57091	GRCh38/hg38 4q13.2-13.3(chr4:66842408-70831557)x1	AMBN, AMTN +76 more	Copy number loss	See cases	GPathogenic
Select item 1241285	NM_012108.4(STAP1):c.193-12T>C	LOC123477751, STAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1784865	NM_012108.4(STAP1):c.203A>G (p.Lys68Arg)	LOC123477751, STAP1 (K68R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1785715	NM_012108.4(STAP1):c.208G>A (p.Asp70Asn)	LOC123477751, STAP1 (D70N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563490	NM_012108.4(STAP1):c.215T>C (p.Val72Ala)	LOC123477751, STAP1 (V72A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2448573	NM_012108.4(STAP1):c.221T>C (p.Leu74Pro)	LOC123477751, STAP1 (L74P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3226189	NM_012108.4(STAP1):c.226T>G (p.Cys76Gly)	STAP1, LOC123477751 (C76G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274704	NM_012108.4(STAP1):c.226T>C (p.Cys76Arg)	LOC123477751, STAP1 (C76R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1789220	NM_012108.4(STAP1):c.229C>A (p.Leu77Ile)	LOC123477751, STAP1 (L77I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3226190	NM_012108.4(STAP1):c.247A>C (p.Thr83Pro)	LOC123477751, STAP1 (T83P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1791883	NM_012108.4(STAP1):c.247A>G (p.Thr83Ala)	LOC123477751, STAP1 (T83A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620985	NM_012108.4(STAP1):c.262G>A (p.Ala88Thr)	LOC123477751, STAP1 (A88T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563489	NM_012108.4(STAP1):c.263C>T (p.Ala88Val)	LOC123477751, STAP1 (A88V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3226191	NM_012108.4(STAP1):c.271A>C (p.Thr91Pro)	LOC123477751, STAP1 (T91P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323075	NM_012108.4(STAP1):c.285G>A (p.Pro95=)	LOC123477751, STAP1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2563495	NM_012108.4(STAP1):c.287A>T (p.Lys96Ile)	LOC123477751, STAP1 (K96I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1797261	NM_012108.4(STAP1):c.288A>G (p.Lys96=)	LOC123477751, STAP1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1797686	NM_012108.4(STAP1):c.291G>A (p.Glu97=)	LOC123477751, STAP1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1798368	NM_012108.4(STAP1):c.297A>G (p.Val99=)	LOC123477751, STAP1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2249360	NM_012108.4(STAP1):c.298C>G (p.Gln100Glu)	LOC123477751, STAP1 (Q100E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2448569	NM_012108.4(STAP1):c.302T>C (p.Leu101Pro)	LOC123477751, STAP1 (L101P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 25