ClinVar for Gene (Select 9801) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3295976	NM_014763.4(MRPL19):c.694C>T (p.Arg232Cys)	MRPL19 (R232C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295975	NM_014763.4(MRPL19):c.544C>T (p.Arg182Trp)	MRPL19 (R182W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207039	NM_014763.4(MRPL19):c.872G>A (p.Arg291Lys)	MRPL19 (R291K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3207036	NM_014763.4(MRPL19):c.822T>A (p.Asp274Glu)	MRPL19 (D274E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062659	GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1	ACTG2, ALMS1 +60 more	Copy number loss	not specified	GLikely pathogenic
Select item 2651081	NM_014763.4(MRPL19):c.600T>C (p.Phe200=)	MRPL19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2608119	NM_014763.4(MRPL19):c.349C>G (p.Leu117Val)	MRPL19 (L117V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549399	NM_014763.4(MRPL19):c.355G>A (p.Val119Ile)	MRPL19 (V119I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408396	NM_014763.4(MRPL19):c.337G>A (p.Val113Ile)	MRPL19 (V113I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374471	NM_014763.4(MRPL19):c.755A>T (p.Gln252Leu)	MRPL19 (Q252L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354584	NM_014763.4(MRPL19):c.23G>C (p.Gly8Ala)	LOC112841599, MRPL19 (G8A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340168	NM_014763.4(MRPL19):c.148G>C (p.Glu50Gln)	MRPL19 (E50Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337294	NM_014763.4(MRPL19):c.64G>T (p.Ala22Ser)	LOC112841599, MRPL19 (A22S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311626	NM_014763.4(MRPL19):c.812G>A (p.Arg271Lys)	MRPL19 (R271K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293797	NM_014763.4(MRPL19):c.121G>A (p.Val41Ile)	MRPL19 (V41I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264442	NM_014763.4(MRPL19):c.316C>T (p.Leu106Phe)	MRPL19 (L106F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235597	NM_014763.4(MRPL19):c.37A>G (p.Met13Val)	LOC112841599, MRPL19 (M13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227607	NM_014763.4(MRPL19):c.211C>T (p.Pro71Ser)	MRPL19 (P71S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220064	NM_014763.4(MRPL19):c.194A>G (p.Lys65Arg)	MRPL19 (K65R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207742	NM_014763.4(MRPL19):c.335A>G (p.Tyr112Cys)	MRPL19 (Y112C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526829	GRCh37/hg19 2p12(chr2:75265687-77573171)	EVA1A, GCFC2 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1340552	GRCh37/hg19 2p12(chr2:75443577-76807661)x3	EVA1A, GCFC2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 980435	GRCh37/hg19 2p12(chr2:75443576-76807661)x3	EVA1A, GCFC2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 769565	NM_014763.4(MRPL19):c.658-9C>T	MRPL19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 726493	NM_014763.4(MRPL19):c.658-9C>A	MRPL19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 689089	GRCh37/hg19 2p13.1-12(chr2:74928349-77095981)x3	EVA1A, GCFC2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 688340	GRCh37/hg19 2p12(chr2:75605955-76387104)x3	EVA1A, GCFC2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 686774	GRCh37/hg19 2p12(chr2:75793425-78869861)x4	EVA1A, GCFC2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 685860	GRCh37/hg19 2p13.1-12(chr2:74972080-83043893)x1	CTNNA2, EVA1A +11 more	Copy number loss	not provided	GPathogenic
Select item 562678	GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1	ATOH8, AUP1 +78 more	Copy number loss	not provided	GPathogenic
Select item 562623	GRCh37/hg19 2p12(chr2:75185910-76183197)x3	TACR1, MRPL19 +3 more	Copy number gain	not provided	GUncertain significance
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442633	GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1	SFTPB, SH2D6 +81 more	Copy number loss	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 146709	GRCh38/hg38 2p12(chr2:75252967-76559478)x3	EVA1A, EVA1A-AS +21 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 41