ClinVar for Gene (Select 81491) - ClinVar

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Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3282427	NM_030784.4(GPR63):c.527G>A (p.Ser176Asn)	GPR63 (S176N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282426	NM_030784.4(GPR63):c.877C>T (p.Leu293Phe)	GPR63 (L293F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282424	NM_030784.4(GPR63):c.605C>T (p.Ser202Phe)	GPR63 (S202F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282423	NM_030784.4(GPR63):c.277T>A (p.Phe93Ile)	GPR63 (F93I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282422	NM_030784.4(GPR63):c.17T>A (p.Val6Glu)	GPR63 (V6E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101818	NM_030784.4(GPR63):c.757A>G (p.Ile253Val)	GPR63 (I253V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101816	NM_030784.4(GPR63):c.700A>C (p.Thr234Pro)	GPR63 (T234P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101815	NM_030784.4(GPR63):c.466G>T (p.Val156Leu)	GPR63 (V156L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101814	NM_030784.4(GPR63):c.209C>G (p.Pro70Arg)	GPR63 (P70R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101813	NM_030784.4(GPR63):c.1181C>T (p.Pro394Leu)	GPR63 (P394L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062939	GRCh37/hg19 6q15-16.3(chr6:91677067-101879124)x3	ASCC3, CCNC +20 more	Copy number gain	not specified	GUncertain significance
Select item 2685211	GRCh37/hg19 6q15-21(chr6:92468126-109410569)x1	AFG1L, ARMC2 +43 more	Copy number loss	not provided	GPathogenic
Select item 2559719	NM_030784.4(GPR63):c.788T>C (p.Met263Thr)	GPR63 (M263T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495659	NM_030784.4(GPR63):c.973G>T (p.Val325Phe)	GPR63 (V325F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489803	NM_030784.4(GPR63):c.1246C>T (p.Arg416Trp)	GPR63 (R416W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408149	NM_030784.4(GPR63):c.346A>G (p.Ile116Val)	GPR63 (I116V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314667	NM_030784.4(GPR63):c.184A>T (p.Asn62Tyr)	GPR63 (N62Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264496	NM_030784.4(GPR63):c.1208G>A (p.Arg403Gln)	GPR63 (R403Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255430	NM_030784.4(GPR63):c.1229A>G (p.Tyr410Cys)	GPR63 (Y410C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216616	NM_030784.4(GPR63):c.355C>T (p.Leu119Phe)	GPR63 (L119F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206239	NM_030784.4(GPR63):c.904A>G (p.Met302Val)	GPR63 (M302V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807838	GRCh37/hg19 6q16.1-21(chr6:96596732-105554568)x1	ASCC3, BVES +21 more	Copy number loss	not provided	GPathogenic
Select item 1807814	GRCh37/hg19 6q16.1-21(chr6:96946110-106497526)x1	ASCC3, BVES +22 more	Copy number loss	not provided	GPathogenic
Select item 1711170	GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1	AKIRIN2, ANKRD6 +65 more	Copy number loss	See cases	GUncertain significance
Select item 1527268	GRCh37/hg19 6q16.1(chr6:96930503-97358358)	FHL5, GPR63 +2 more	Copy number gain	not specified	GUncertain significance
Select item 1527267	GRCh37/hg19 6q15-16.3(chr6:92576950-104658245)	ASCC3, CCNC +20 more	Copy number loss	not specified	GPathogenic
Select item 1527266	GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)	AFG1L, AK9 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	AFG1L, AK9 +138 more	Copy number loss	not specified	GPathogenic
Select item 1340096	GRCh37/hg19 6q16.1(chr6:97115084-97372081)x1	GPR63, NDUFAF4	Copy number loss	not provided	GUncertain significance
Select item 974789	GRCh37/hg19 6q16.1(chr6:96028232-97247130)x1	MANEA, UFL1 +3 more	Copy number loss	Microcephaly +1 more	GLikely pathogenic
Select item 685481	GRCh37/hg19 6q16.1(chr6:96925561-97358357)x3	FHL5, GPR63 +2 more	Copy number gain	not provided	GUncertain significance
Select item 563208	GRCh37/hg19 6q16.1(chr6:96930503-97358358)x3	UFL1, GPR63 +2 more	Copy number gain	not provided	GUncertain significance
Select item 563204	GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1	AFG1L, AK9 +80 more	Copy number loss	not provided	GPathogenic
Select item 563199	GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3	AKIRIN2, ANKRD6 +56 more	Copy number gain	not provided	GPathogenic
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
Select item 443296	GRCh37/hg19 6q16.1-21(chr6:94202605-109878834)x1	ZBTB24, AFG1L +49 more	Copy number loss	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 146487	GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1	SMIM8, SNHG5 +247 more	Copy number loss	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 40