ClinVar for Gene (Select 64969) - ClinVar

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

Links from Gene

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3296131	NM_031902.5(MRPS5):c.47G>T (p.Ser16Ile)	MRPS5 (S16I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3296130	NM_031902.5(MRPS5):c.989A>C (p.Lys330Thr)	MRPS5 (K251T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296129	NM_031902.5(MRPS5):c.1040A>G (p.Gln347Arg)	MRPS5 (Q268R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3296128	NM_031902.5(MRPS5):c.613C>T (p.Pro205Ser)	MRPS5 (P205S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3296127	NM_031902.5(MRPS5):c.1157C>T (p.Ser386Phe)	MRPS5 (S220F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209665	NM_031902.5(MRPS5):c.570G>T (p.Glu190Asp)	MRPS5 (E190D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3209657	NM_031902.5(MRPS5):c.565C>T (p.Arg189Trp)	MRPS5 (R110W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3209651	NM_031902.5(MRPS5):c.55G>A (p.Ala19Thr)	MRPS5 (A19T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3209635	NM_031902.5(MRPS5):c.502G>A (p.Val168Met)	MRPS5 (G28D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209630	NM_031902.5(MRPS5):c.445A>G (p.Met149Val)	MRPS5 (M149V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209628	NM_031902.5(MRPS5):c.313G>C (p.Glu105Gln)	MRPS5 (E26Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3209618	NM_031902.5(MRPS5):c.1255C>T (p.Arg419Cys)	MRPS5 (R340C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209606	NM_031902.5(MRPS5):c.1210G>A (p.Val404Ile)	MRPS5 (V238I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3209601	NM_031902.5(MRPS5):c.1084C>G (p.Leu362Val)	MRPS5 (L196V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209594	NM_031902.5(MRPS5):c.1022A>G (p.Asn341Ser)	MRPS5 (N175S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685857	GRCh37/hg19 2q11.1-11.2(chr2:95773428-102550061)x3	ACTR1B, ADRA2B +64 more	Copy number gain	not provided	GLikely pathogenic
Select item 2685856	GRCh37/hg19 2q11.1(chr2:95341687-96259199)x3	FAHD2A, KCNIP3 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2651117	NM_031902.5(MRPS5):c.1119C>A (p.Ile373=)	MRPS5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2614071	NM_031902.5(MRPS5):c.925C>G (p.Pro309Ala)	MRPS5 (P143A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591364	NM_031902.5(MRPS5):c.791G>A (p.Arg264Gln)	MRPS5 (R264Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552869	NM_031902.5(MRPS5):c.1129T>A (p.Cys377Ser)	MRPS5 (C211S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522659	NM_031902.5(MRPS5):c.1217T>G (p.Leu406Arg)	MRPS5 (L406R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491625	NM_031902.5(MRPS5):c.1221C>G (p.Asp407Glu)	MRPS5 (D241E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488054	NM_031902.5(MRPS5):c.533A>G (p.Glu178Gly)	MRPS5 (E99G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2482281	NM_031902.5(MRPS5):c.566G>A (p.Arg189Gln)	MRPS5 (R110Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2476883	NM_031902.5(MRPS5):c.181G>T (p.Ala61Ser)	MRPS5 (A61S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2476713	NM_031902.5(MRPS5):c.614C>T (p.Pro205Leu)	MRPS5 (P205L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2466904	NM_031902.5(MRPS5):c.1026G>T (p.Met342Ile)	MRPS5 (M342I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386186	NM_031902.5(MRPS5):c.83C>T (p.Ser28Phe)	MRPS5 (S28F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2367505	NM_031902.5(MRPS5):c.514A>G (p.Met172Val)	MRPS5 (M172V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356478	NM_031902.5(MRPS5):c.944G>A (p.Arg315His)	MRPS5 (R236H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345329	NM_031902.5(MRPS5):c.25G>T (p.Gly9Cys)	MRPS5 (G9C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2317684	NM_031902.5(MRPS5):c.797A>T (p.Asp266Val)	MRPS5 (D100V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275084	NM_031902.5(MRPS5):c.559G>T (p.Val187Phe)	MRPS5 (V108F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2259299	NM_031902.5(MRPS5):c.194G>A (p.Arg65His)	MRPS5 (R65H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2233603	NM_031902.5(MRPS5):c.202C>G (p.Gln68Glu)	MRPS5 (Q68E)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1809050	GRCh37/hg19 2q11.1(chr2:95777121-96248568)x3	FAHD2A, KCNIP3 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1808615	GRCh37/hg19 2q11.1-11.2(chr2:95341388-100340514)x3	ACTR1B, ADRA2B +54 more	Copy number gain	not provided	GLikely pathogenic
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 1526874	GRCh37/hg19 2q11.1(chr2:95341387-96735978)	ANKRD36C, FAHD2A +10 more	Copy number loss	not specified	GUncertain significance
Select item 1340501	GRCh37/hg19 2q11.1(chr2:95341686-96193214)x3	FAHD2A, KCNIP3 +7 more	Copy number gain	not provided	GUncertain significance
Select item 687921	GRCh37/hg19 2q11.1(chr2:95476818-96193825)x3	FAHD2A, KCNIP3 +7 more	Copy number gain	not provided	GUncertain significance
Select item 562639	GRCh37/hg19 2q11.1(chr2:95341387-96719347)x1	ANKRD36C, FAHD2A +10 more	Copy number loss	not provided	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 443415	GRCh37/hg19 2q11.1-12.2(chr2:95518497-107186127)	ACTR1B, ADRA2B +86 more	Copy number gain	See cases	GUncertain significance
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 395690	GRCh37/hg19 2q11.1-12.3(chr2:95529039-108518266)	ACTR1B, ADRA2B +88 more	Copy number gain	See cases	GPathogenic
Select item 394206	GRCh37/hg19 2q11.1-11.2(chr2:95691600-100587394)	AFF3, ADRA2B +53 more	Copy number gain	See cases	GPathogenic
Select item 221788	GRCh37/hg19 2q11.1(chr2:95444917-95977790)x3	TEKT4, ZNF2 +5 more	Copy number gain	Premature ovarian failure	GUncertain significance
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 152512	GRCh38/hg38 2q11.1(chr2:95079592-95408265)x3	FAHD2A, KCNIP3 +13 more	Copy number gain	See cases	GUncertain significance
Select item 148257	GRCh38/hg38 2q11.1(chr2:94751190-95675040)x3	FAHD2A, FAM95A +26 more	Copy number gain	See cases	GLikely benign
Select item 59146	GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3	LOC129934355, LOC129934356 +348 more	Copy number gain	See cases	GPathogenic
Select item 59145	GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3	ACTR1B, ADRA2B +331 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

Links from Gene

Items: 56