6223[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 545227	Single allele	LOC130064626, LOC130064627 +215 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 329379	NM_001022.3(RPS19):c.-339T>C	RPS19	Single nucleotide variant	Diamond-Blackfan anemia 1	GUncertain significance
Select item 329380	NM_001022.3(RPS19):c.-288A>C	RPS19	Single nucleotide variant	Diamond-Blackfan anemia 1	GBenign
Select item 329381	NM_001022.3(RPS19):c.-274T>C	RPS19	Single nucleotide variant	Diamond-Blackfan anemia 1	GBenign
Select item 329382	NM_001022.3(RPS19):c.-234G>A	RPS19	Single nucleotide variant	Diamond-Blackfan anemia 1	GBenign
Select item 893192	NM_001022.3(RPS19):c.-190C>G	RPS19	Single nucleotide variant	Diamond-Blackfan anemia 1	GUncertain significance
Select item 2683503	NM_001022.3(RPS19):c.-180C>T	RPS19	Single nucleotide variant	not provided	GUncertain significance
Select item 1163144	NM_001022.3(RPS19):c.-167C>T	RPS19	Single nucleotide variant	not provided	GUncertain significance
Select item 329383	NM_001022.3(RPS19):c.-151G>T	RPS19	Single nucleotide variant	Diamond-Blackfan anemia 1	GUncertain significance
Select item 329384	NM_001022.3(RPS19):c.-146_-145insGCCA	RPS19	Insertion	Diamond-Blackfan anemia +1 more	GBenign
Select item 329385	NM_001022.3(RPS19):c.-139C>T	RPS19	Single nucleotide variant	Diamond-Blackfan anemia	GUncertain significance
Select item 1693750	NM_001022.3(RPS19):c.-137C>T	RPS19	Single nucleotide variant	not provided	GUncertain significance
Select item 329386	NM_001022.3(RPS19):c.-74C>T	RPS19	Single nucleotide variant	Diamond-Blackfan anemia 1	GUncertain significance
Select item 893193	NM_001022.3(RPS19):c.-50G>A	RPS19	Single nucleotide variant	Diamond-Blackfan anemia 1	GUncertain significance
Select item 2683504	NM_001022.4(RPS19):c.-33C>T	RPS19	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 893194	NM_001022.4(RPS19):c.-26C>T	RPS19	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia 1	GUncertain significance
Select item 329387	NM_001022.4(RPS19):c.-10A>G	RPS19	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia 1	GLikely benign
Select item 329388	NM_001022.4(RPS19):c.-1+14C>T	RPS19	Single nucleotide variant (5 prime UTR variant +1 more)	Diamond-Blackfan anemia 1	GUncertain significance
Select item 1164625	NM_001022.4(RPS19):c.-1+26G>T	RPS19	Single nucleotide variant (5 prime UTR variant +1 more)	Diamond-Blackfan anemia +1 more	GBenign
Select item 440244	NM_001022.4(RPS19):c.-1+36=	RPS19	Single nucleotide variant (no sequence alteration +1 more)	not specified	GBenign
Select item 1239177	NM_001022.4(RPS19):c.-1+94C>G	RPS19	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 88978	NM_001022.3(RPS19):c.1-231_173-3418del	RPS19	Deletion	Diamond-Blackfan anemia 1	GPathogenic
Select item 329389	NM_001022.4(RPS19):c.1-14A>G	RPS19	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 1	GLikely benign
Select item 894042	NM_001022.4(RPS19):c.1-13C>T	RPS19	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 1	GBenign/Likely benign
Select item 2435479	NM_001022.4(RPS19):c.1-9C>T	RPS19	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 1	GUncertain significance
Select item 329390	NM_001022.4(RPS19):c.1-9C>A	RPS19	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 1	GLikely benign
Select item 436552	NM_001022.4(RPS19):c.1-7C>T	RPS19	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2780439	NM_001022.4(RPS19):c.1A>C (p.Met1Leu)	RPS19 (M1L)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia	GPathogenic
Select item 1687343	NM_001022.4(RPS19):c.1A>G (p.Met1Val)	RPS19 (M1V)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 1	GUncertain significance
Select item 1736908	NM_001022.4(RPS19):c.3G>C (p.Met1Ile)	RPS19 (M1I)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia	GPathogenic
Select item 860401	NM_001022.4(RPS19):c.3G>A (p.Met1Ile)	RPS19 (M1I)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia	GPathogenic
Select item 372494	NM_001022.4(RPS19):c.3G>T (p.Met1Ile)	RPS19 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 1563472	NM_001022.4(RPS19):c.6T>G (p.Pro2=)	RPS19	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 953930	NM_001022.4(RPS19):c.10G>T (p.Val4Phe)	RPS19 (V4F)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 858368	NM_001022.4(RPS19):c.13dup (p.Thr5fs)	RPS19 (T5fs)	Duplication (frameshift variant)	Diamond-Blackfan anemia	GPathogenic
Select item 1133136	NM_001022.4(RPS19):c.15T>A (p.Thr5=)	RPS19	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 940580	NM_001022.4(RPS19):c.16del (p.Thr5_Val6insTer)	RPS19	Deletion (nonsense)	Diamond-Blackfan anemia	GPathogenic
Select item 1787597	NM_001022.4(RPS19):c.21del (p.Asp8fs)	RPS19 (D8fs)	Deletion (frameshift variant)	Diamond-Blackfan anemia	GPathogenic
Select item 2581165	NM_001022.4(RPS19):c.20_22delinsCTCCAGCATCCAGTT (p.Lys7_Asp8delinsThrProAlaSerSerTyr)	RPS19	Indel (inframe_indel)	not specified	GUncertain significance
Select item 1619870	NM_001022.4(RPS19):c.24C>T (p.Asp8=)	RPS19	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2699607	NM_001022.4(RPS19):c.25G>A (p.Val9Met)	RPS19 (V9M)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 1732047	NM_001022.4(RPS19):c.34C>T (p.Gln12Ter)	RPS19 (Q12*)	Single nucleotide variant (nonsense)	Diamond-Blackfan anemia	GPathogenic
Select item 242804	NM_001022.4(RPS19):c.43G>T (p.Val15Phe)	RPS19 (V15F)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2157202	NM_001022.4(RPS19):c.49G>A (p.Ala17Thr)	RPS19 (A17T)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 427171	NM_001022.4(RPS19):c.49G>C (p.Ala17Pro)	RPS19 (A17P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2197930	NM_001022.4(RPS19):c.52C>T (p.Leu18=)	RPS19	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1006194	NM_001022.4(RPS19):c.53T>C (p.Leu18Pro)	RPS19 (L18P)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GPathogenic
Select item 1085250	NM_001022.4(RPS19):c.57A>G (p.Ala19=)	RPS19	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1072173	NM_001022.4(RPS19):c.58_61dup (p.Phe21fs)	RPS19 (F21fs)	Duplication (frameshift variant)	Diamond-Blackfan anemia	GPathogenic
Select item 329391	NM_001022.4(RPS19):c.60C>G (p.Ala20=)	RPS19	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 1 +4 more	GBenign/Likely benign
Select item 2730442	NM_001022.4(RPS19):c.64C>T (p.Leu22Phe)	RPS19 (L22F)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 2444176	NM_001022.4(RPS19):c.71del (p.Lys24fs)	RPS19 (K24fs)	Deletion (frameshift variant)	Diamond-Blackfan anemia 1	GLikely pathogenic
Select item 329392	NM_001022.4(RPS19):c.68A>G (p.Lys23Arg)	RPS19 (K23R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1523971	NM_001022.4(RPS19):c.71+1G>C	RPS19	Single nucleotide variant (splice donor variant)	Diamond-Blackfan anemia	GLikely pathogenic
Select item 894043	NM_001022.4(RPS19):c.71+6T>A	RPS19	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 1	GUncertain significance
Select item 329393	NM_001022.4(RPS19):c.71+12del	RPS19	Deletion (intron variant)	Diamond-Blackfan anemia	GConflicting classifications of pathogenicity
Select item 2736983	NM_001022.4(RPS19):c.71+18G>A	RPS19	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1630366	NM_001022.4(RPS19):c.71+19G>A	RPS19	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 238215	NM_001022.4(RPS19):c.72-92A>G	RPS19	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1565135	NM_001022.4(RPS19):c.72-17C>G	RPS19	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia +1 more	GBenign/Likely benign
Select item 2201345	NM_001022.4(RPS19):c.72-15C>T	RPS19	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 509474	NM_001022.4(RPS19):c.72-15C>G	RPS19	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 532182	NM_001022.4(RPS19):c.72-10T>G	RPS19	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1758166	NM_001022.4(RPS19):c.72-9T>A	RPS19	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 1176075	NM_001022.4(RPS19):c.72-1G>C	RPS19	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 647481	NM_001022.4(RPS19):c.72-1G>A	RPS19	Single nucleotide variant (splice acceptor variant)	Diamond-Blackfan anemia	GLikely pathogenic
Select item 704181	NM_001022.4(RPS19):c.75C>G (p.Ser25=)	RPS19	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 463374	NM_001022.4(RPS19):c.75C>T (p.Ser25=)	RPS19	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 1 +1 more	GLikely benign
Select item 1761564	NM_001022.4(RPS19):c.79A>T (p.Lys27Ter)	RPS19 (K27*)	Single nucleotide variant (nonsense)	Diamond-Blackfan anemia	GPathogenic
Select item 1714070	NM_001022.4(RPS19):c.80A>G (p.Lys27Arg)	RPS19 (K27R)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 704182	NM_001022.4(RPS19):c.87A>G (p.Lys29=)	RPS19	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2051229	NM_001022.4(RPS19):c.90C>G (p.Val30=)	RPS19	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1646466	NM_001022.4(RPS19):c.93C>G (p.Pro31=)	RPS19	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2138299	NM_001022.4(RPS19):c.94G>T (p.Glu32Ter)	RPS19 (E32*)	Single nucleotide variant (nonsense)	Diamond-Blackfan anemia +1 more	GPathogenic
Select item 6315	NM_001022.4(RPS19):c.98G>A (p.Trp33Ter)	RPS19 (W33*)	Single nucleotide variant (nonsense)	Diamond-Blackfan anemia 1 +1 more	GPathogenic
Select item 940523	NM_001022.4(RPS19):c.99G>A (p.Trp33Ter)	RPS19 (W33*)	Single nucleotide variant (nonsense)	Diamond-Blackfan anemia	GPathogenic
Select item 2129014	NM_001022.4(RPS19):c.101del (p.Val34fs)	RPS19 (V34fs)	Deletion (frameshift variant)	Diamond-Blackfan anemia	GPathogenic
Select item 418695	NM_001022.4(RPS19):c.105dup (p.Thr36fs)	RPS19 (T36fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2585122	NM_001022.4(RPS19):c.106A>G (p.Thr36Ala)	RPS19 (T36A)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 1	GUncertain significance
Select item 2155384	NM_001022.4(RPS19):c.108C>T (p.Thr36=)	RPS19	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1791853	NM_001022.4(RPS19):c.109G>T (p.Val37Phe)	RPS19 (V37F)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 1727796	NM_001022.4(RPS19):c.112A>C (p.Lys38Gln)	RPS19 (K38Q)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 1954975	NM_001022.4(RPS19):c.114G>A (p.Lys38=)	RPS19	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2180972	NM_001022.4(RPS19):c.120C>G (p.Ala40=)	RPS19	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2435478	NM_001022.4(RPS19):c.124C>T (p.His42Tyr)	RPS19 (H42Y)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 1	GUncertain significance
Select item 699399	NM_001022.4(RPS19):c.126C>T (p.His42=)	RPS19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 504400	NM_001022.4(RPS19):c.128_129del (p.Lys43fs)	RPS19 (K43fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1496732	NM_001022.4(RPS19):c.128A>G (p.Lys43Arg)	RPS19 (K43R)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 1 +1 more	GUncertain significance
Select item 871299	NM_001022.4(RPS19):c.131_132del (p.Glu44fs)	RPS19 (E44fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2154602	NM_001022.4(RPS19):c.132G>A (p.Glu44=)	RPS19	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1711088	NM_001022.4(RPS19):c.134_135inv (p.Leu45Gln)	RPS19	Inversion (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 6318	NM_001022.4(RPS19):c.[134_135inv;138_139dup]	RPS19 (P47fs)	Inversion (missense variant +1 more)	Diamond-Blackfan anemia 1	GPathogenic
Select item 1711089	NM_001022.4(RPS19):c.138_139dup (p.Pro47fs)	RPS19 (P47fs)	Duplication (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 418459	NM_001022.4(RPS19):c.139C>T (p.Pro47Ser)	RPS19 (P47S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1771987	NM_001022.4(RPS19):c.140C>T (p.Pro47Leu)	RPS19 (P47L)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GLikely pathogenic
Select item 2148219	NM_001022.4(RPS19):c.141C>T (p.Pro47=)	RPS19	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2967935	NM_001022.4(RPS19):c.145G>C (p.Asp49His)	RPS19 (D49H)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 1776086	NM_001022.4(RPS19):c.159C>T (p.Phe53=)	RPS19	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign

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