1600[HGNC] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60184	GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1	ACMSD, AMER3 +391 more	Copy number loss	See cases	GPathogenic
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 3140017	NM_058241.3(CCNT2):c.107G>A (p.Cys36Tyr)	CCNT2, LOC129934828 (C36Y)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2323478	NM_058241.3(CCNT2):c.224C>G (p.Thr75Ser)	CCNT2 (T75S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2609519	NM_058241.3(CCNT2):c.415A>G (p.Met139Val)	CCNT2 (M139V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 619077	NM_058241.3(CCNT2):c.430+1G>C	CCNT2	Single nucleotide variant (splice donor variant)	Premature ovarian insufficiency	GUncertain significance
Select item 150644	GRCh38/hg38 2q21.3(chr2:134950277-135611818)x3	CCNT2, LOC111562379 +14 more	Copy number gain	See cases	GUncertain significance
Select item 3264612	NM_058241.3(CCNT2):c.803T>C (p.Val268Ala)	CCNT2 (V268A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531512	NM_058241.3(CCNT2):c.844T>G (p.Leu282Val)	CCNT2 (L138V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140022	NM_058241.3(CCNT2):c.969A>C (p.Gln323His)	CCNT2 (Q323H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338681	NM_058241.3(CCNT2):c.979A>G (p.Thr327Ala)	CCNT2 (T183A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140016	NM_058241.3(CCNT2):c.1078A>G (p.Thr360Ala)	CCNT2 (T185A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274599	NM_058241.3(CCNT2):c.1094C>T (p.Ser365Leu)	CCNT2 (S365L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512758	NM_058241.3(CCNT2):c.1135A>G (p.Ile379Val)	CCNT2 (I235V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392291	NM_058241.3(CCNT2):c.1151G>A (p.Gly384Glu)	CCNT2 (G240E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140018	NM_058241.3(CCNT2):c.1180C>T (p.His394Tyr)	CCNT2 (H219Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212630	NM_058241.3(CCNT2):c.1276A>G (p.Thr426Ala)	CCNT2 (T251A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140019	NM_058241.3(CCNT2):c.1304C>T (p.Ser435Phe)	CCNT2 (S260F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533145	NM_058241.3(CCNT2):c.1372G>A (p.Ala458Thr)	CCNT2 (A283T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372105	NM_058241.3(CCNT2):c.1531A>G (p.Ile511Val)	CCNT2 (I367V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513520	NM_058241.3(CCNT2):c.1696A>G (p.Ser566Gly)	CCNT2 (S566G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400911	NM_058241.3(CCNT2):c.1777G>A (p.Gly593Arg)	CCNT2 (G418R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264608	NM_058241.3(CCNT2):c.1784C>T (p.Pro595Leu)	CCNT2 (P451L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340761	NM_058241.3(CCNT2):c.1792G>A (p.Val598Ile)	CCNT2 (V598I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321308	NM_058241.3(CCNT2):c.1826G>A (p.Gly609Asp)	CCNT2 (G609D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490051	NM_058241.3(CCNT2):c.1973A>T (p.His658Leu)	CCNT2 (H483L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3264611	NM_058241.3(CCNT2):c.1991A>T (p.His664Leu)	CCNT2 (H520L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3140020	NM_058241.3(CCNT2):c.2062G>T (p.Asp688Tyr)	CCNT2 (D544Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264613	NM_058241.3(CCNT2):c.2070G>A (p.Lys690=)	CCNT2 (A657T)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2207279	NM_058241.3(CCNT2):c.2086G>A (p.Gly696Ser)	CCNT2 (G696S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264610	NM_058241.3(CCNT2):c.2099A>G (p.Asn700Ser)	CCNT2 (N700S +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3264614	NM_058241.3(CCNT2):c.2104G>C (p.Glu702Gln)	CCNT2 (E558Q +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3264615	NM_058241.3(CCNT2):c.2117G>A (p.Ser706Asn)	CCNT2 (S706N +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3264616	NM_058241.3(CCNT2):c.2148C>G (p.Phe716Leu)	CCNT2 (F572L +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2220459	NM_058241.3(CCNT2):c.2149G>A (p.Asp717Asn)	CCNT2 (D573N +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +1 more	GUncertain significance
Select item 3140021	NM_058241.3(CCNT2):c.2180G>C (p.Gly727Ala)	CCNT2 (G727A +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	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 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 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 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: 48