ClinVar for Gene (Select 23518) - ClinVar

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

Links from Gene

Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3312021	NM_001378107.1(R3HDM1):c.2624A>C (p.Asn875Thr)	R3HDM1 (N712T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312020	NM_001378107.1(R3HDM1):c.1529C>T (p.Thr510Ile)	R3HDM1 (T381I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312019	NM_001378107.1(R3HDM1):c.289T>C (p.Ser97Pro)	R3HDM1 (S97P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312018	NM_001378107.1(R3HDM1):c.3395G>T (p.Ser1132Ile)	R3HDM1 (S1132I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312017	NM_001378107.1(R3HDM1):c.2246A>G (p.Asn749Ser)	R3HDM1 (N586S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312016	NM_001378107.1(R3HDM1):c.1214A>G (p.Lys405Arg)	R3HDM1 (K349R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312014	NM_001378107.1(R3HDM1):c.2108A>G (p.Asn703Ser)	R3HDM1 (N540S +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3312013	NM_001378107.1(R3HDM1):c.565C>T (p.Arg189Cys)	R3HDM1 (R145C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312012	NM_001378107.1(R3HDM1):c.337G>C (p.Glu113Gln)	R3HDM1 (E57Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312011	NM_001378107.1(R3HDM1):c.3182G>A (p.Arg1061His)	R3HDM1 (R1026H +4 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2424679	NC_000002.11:g.(?_135809878)_(136875630_?)del	CXCR4, DARS1 +7 more	Deletion	Warts, hypogammaglobulinemia, infections, and myelokathexis	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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)	ACVR2A, ARHGAP15 +28 more	Copy number gain	Global developmental delay +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
Select item 150644	GRCh38/hg38 2q21.3(chr2:134950277-135611818)x3	CCNT2, LOC111562379 +14 more	Copy number gain	See cases	GUncertain significance
Select item 147544	GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1	ACMSD, AMER3 +336 more	Copy number loss	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: 77