28853[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic
Select item 2354474	NM_001270639.2(JOSD2):c.515T>C (p.Leu172Pro)	JOSD2 (L130P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112454	NM_001270639.2(JOSD2):c.439G>A (p.Glu147Lys)	JOSD2 (E105K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616485	NM_001270639.2(JOSD2):c.433G>A (p.Ala145Thr)	JOSD2 (A103T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285566	NM_001270639.2(JOSD2):c.430C>T (p.Arg144Trp)	JOSD2 (R144W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112453	NM_001270639.2(JOSD2):c.373C>T (p.His125Tyr)	JOSD2 (H125Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287221	NM_001270639.2(JOSD2):c.368G>A (p.Arg123Gln)	JOSD2 (R123Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315830	NM_001270639.2(JOSD2):c.265A>G (p.Arg89Gly)	JOSD2 (R89G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287222	NM_001270639.2(JOSD2):c.253G>A (p.Val85Met)	JOSD2 (V85M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206188	NM_001270639.2(JOSD2):c.179G>A (p.Arg60His)	JOSD2 (R60H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251616	NM_001270639.2(JOSD2):c.164G>A (p.Arg55Gln)	JOSD2 (R55Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525537	NM_001270639.2(JOSD2):c.163C>T (p.Arg55Trp)	JOSD2 (R55W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112456	NM_001270639.2(JOSD2):c.89A>G (p.Asn30Ser)	JOSD2 (N30S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112455	NM_001270639.2(JOSD2):c.68T>G (p.Leu23Arg)	JOSD2 (L23R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232021	NM_001270639.2(JOSD2):c.52C>G (p.Arg18Gly)	JOSD2 (R18G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301499	NM_001270639.2(JOSD2):c.49G>A (p.Glu17Lys)	JOSD2 (E17K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209446	NM_001270639.2(JOSD2):c.49G>C (p.Glu17Gln)	JOSD2 (E17Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808756	GRCh37/hg19 19q13.33(chr19:50883114-51304591)x3	ACP4, ASPDH +13 more	Copy number gain	not provided	GUncertain significance
Select item 1526670	GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438)	FPR3, ZNF577 +115 more	Copy number gain	not specified	GLikely pathogenic
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816089	GRCh37/hg19 19q13.33-13.41(chr19:50469730-51916485)x3	ACP4, ASPDH +46 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 686542	GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3	C19orf81, CD37 +66 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 33