14498[HGNC] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59145	GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3	ACTR1B, ADRA2B +331 more	Copy number gain	See cases	GPathogenic
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
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 152512	GRCh38/hg38 2q11.1(chr2:95079592-95408265)x3	FAHD2A, KCNIP3 +13 more	Copy number gain	See cases	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 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 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 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 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 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 2651117	NM_031902.5(MRPS5):c.1119C>A (p.Ile373=)	MRPS5	Single nucleotide variant (synonymous variant +1 more)	not provided	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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

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Items: 56