R3HDM1[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147544	GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1	ACMSD, AMER3 +336 more	Copy number loss	See cases	GPathogenic
Select item 150644	GRCh38/hg38 2q21.3(chr2:134950277-135611818)x3	CCNT2, LOC111562379 +14 more	Copy number gain	See cases	GUncertain significance
Select item 2464580	NM_001378107.1(R3HDM1):c.86T>C (p.Val29Ala)	R3HDM1 (V29A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150505	NM_001378107.1(R3HDM1):c.287T>G (p.Ile96Arg)	R3HDM1 (I96R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320179	NM_001378107.1(R3HDM1):c.386G>A (p.Ser129Asn)	R3HDM1 (S129N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317927	NM_001378107.1(R3HDM1):c.725T>C (p.Ile242Thr)	R3HDM1 (I198T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150508	NM_001378107.1(R3HDM1):c.952G>A (p.Glu318Lys)	R3HDM1 (E262K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288049	NM_001378107.1(R3HDM1):c.1040G>A (p.Ser347Asn)	R3HDM1 (S347N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150497	NM_001378107.1(R3HDM1):c.1059G>T (p.Lys353Asn)	R3HDM1 (K353N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482434	NM_001378107.1(R3HDM1):c.1244G>C (p.Gly415Ala)	R3HDM1 (G415A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274056	NM_001378107.1(R3HDM1):c.1252A>G (p.Thr418Ala)	R3HDM1 (T362A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295323	NM_001378107.1(R3HDM1):c.1294G>C (p.Ala432Pro)	R3HDM1 (A376P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548925	NM_001378107.1(R3HDM1):c.1331A>G (p.Tyr444Cys)	R3HDM1 (Y388C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348010	NM_001378107.1(R3HDM1):c.1366G>C (p.Asp456His)	R3HDM1 (D456H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487768	NM_001378107.1(R3HDM1):c.1408T>C (p.Phe470Leu)	R3HDM1 (F414L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513265	NM_001378107.1(R3HDM1):c.1420C>T (p.Pro474Ser)	R3HDM1 (P418S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150498	NM_001378107.1(R3HDM1):c.1430C>T (p.Ala477Val)	R3HDM1 (A477V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492761	NM_001378107.1(R3HDM1):c.1526T>C (p.Met509Thr)	R3HDM1 (M453T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150499	NM_001378107.1(R3HDM1):c.1538C>G (p.Pro513Arg)	R3HDM1 (P457R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543041	NM_001378107.1(R3HDM1):c.1787G>A (p.Gly596Asp)	R3HDM1 (G596D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400473	NM_001378107.1(R3HDM1):c.1802C>G (p.Ala601Gly)	R3HDM1 (A601G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369644	NM_001378107.1(R3HDM1):c.1847C>G (p.Ser616Cys)	R3HDM1 (S526C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236047	NM_001378107.1(R3HDM1):c.1861A>G (p.Thr621Ala)	R3HDM1 (T458A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512586	NM_001378107.1(R3HDM1):c.1871C>T (p.Pro624Leu)	R3HDM1 (P589L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393498	NM_001378107.1(R3HDM1):c.1880A>G (p.His627Arg)	R3HDM1 (H592R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150500	NM_001378107.1(R3HDM1):c.1885C>T (p.Pro629Ser)	R3HDM1 (P595S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475361	NM_001378107.1(R3HDM1):c.1885C>G (p.Pro629Ala)	R3HDM1 (P466A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237343	NM_001378107.1(R3HDM1):c.1900C>A (p.Pro634Thr)	R3HDM1 (P600T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237519	NM_001378107.1(R3HDM1):c.2020T>A (p.Ser674Thr)	R3HDM1 (S511T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542459	NM_001378107.1(R3HDM1):c.2074C>T (p.Pro692Ser)	R3HDM1 (P529S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227290	NM_001378107.1(R3HDM1):c.2083C>T (p.Arg695Cys)	R3HDM1 (R532C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346568	NM_001378107.1(R3HDM1):c.2084G>A (p.Arg695His)	R3HDM1 (R532H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510694	NM_001378107.1(R3HDM1):c.2189A>G (p.Gln730Arg)	R3HDM1 (Q567R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326834	NM_001378107.1(R3HDM1):c.2200G>A (p.Gly734Arg)	R3HDM1 (G700R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150501	NM_001378107.1(R3HDM1):c.2262G>C (p.Gln754His)	R3HDM1 (Q591H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589058	NM_001378107.1(R3HDM1):c.2462C>G (p.Ser821Cys)	R3HDM1 (S786C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150502	NM_001378107.1(R3HDM1):c.2470G>A (p.Gly824Ser)	R3HDM1 (G789S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455047	NM_001378107.1(R3HDM1):c.2572C>A (p.Pro858Thr)	R3HDM1 (P695T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150503	NM_001378107.1(R3HDM1):c.2597T>C (p.Val866Ala)	R3HDM1 (V703A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343905	NM_001378107.1(R3HDM1):c.2726A>G (p.Asn909Ser)	R3HDM1 (N819S +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2327941	NM_001378107.1(R3HDM1):c.2731G>T (p.Val911Phe)	R3HDM1 (V748F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371377	NM_001378107.1(R3HDM1):c.2765T>C (p.Ile922Thr)	R3HDM1 (I888T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559834	NM_001378107.1(R3HDM1):c.2774C>T (p.Ala925Val)	R3HDM1 (A762V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454248	NM_001378107.1(R3HDM1):c.2863C>T (p.Pro955Ser)	R3HDM1 (P865S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150504	NM_001378107.1(R3HDM1):c.2869G>T (p.Val957Phe)	R3HDM1 (V794F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531238	NM_001378107.1(R3HDM1):c.3031C>T (p.Leu1011Phe)	R3HDM1 (L976F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150506	NM_001378107.1(R3HDM1):c.3067G>A (p.Glu1023Lys)	R3HDM1 (E1023K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206382	NM_001378107.1(R3HDM1):c.3152G>A (p.Arg1051Gln)	R3HDM1 (R1017Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281885	NM_001378107.1(R3HDM1):c.3226C>G (p.Pro1076Ala)	R3HDM1 (P1042A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150507	NM_001378107.1(R3HDM1):c.3328T>G (p.Ser1110Ala)	R3HDM1 (S1110A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248777	NM_001378107.1(R3HDM1):c.3362A>G (p.Lys1121Arg)	R3HDM1 (K1086R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062609	GRCh37/hg19 2q21.3-22.1(chr2:136445987-137460731)x3	CXCR4, DARS1 +4 more	Copy number gain	not specified	GUncertain significance
Select item 3062608	GRCh37/hg19 2q21.2-23.2(chr2:134589311-149951291)x3	ACMSD, ACVR2A +26 more	Copy number gain	not specified	GLikely pathogenic
Select item 2424679	NC_000002.11:g.(?_135809878)_(136875630_?)del	CXCR4, DARS1 +7 more	Deletion	Warts, hypogammaglobulinemia, infections, and myelokathexis	GUncertain significance
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 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 1339988	GRCh37/hg19 2q14.3-22.2(chr2:122699106-143799629)x1	ACMSD, AMER3 +64 more	Copy number loss	not provided	GPathogenic
Select item 1047890	GRCh37/hg19 2q21.3-23.3(chr2:136473383-152727396)	RIF1, RND3 +28 more	Copy number gain	Strabismus +2 more	GPathogenic
Select item 688634	GRCh37/hg19 2q21.3-22.1(chr2:135712129-137818795)x3	CCNT2, CXCR4 +10 more	Copy number gain	not provided	GUncertain significance
Select item 686222	GRCh37/hg19 2q21.2-22.1(chr2:133457177-138188195)x1	ACMSD, CCNT2 +14 more	Copy number loss	not provided	GPathogenic
Select item 685798	GRCh37/hg19 2q21.3(chr2:136085311-136419768)x1	R3HDM1, ZRANB3	Copy number loss	not provided	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
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 441676	GRCh37/hg19 2q14.2-22.1(chr2:120571363-141627287)x1	ACMSD, AMER3 +74 more	Copy number loss	See cases	GPathogenic

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Items: 67