ClinVar for Gene (Select 8646) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3267126	NM_003741.4(CHRD):c.2279C>A (p.Pro760His)	CHRD (P760H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267125	NM_003741.4(CHRD):c.416T>A (p.Leu139Gln)	CHRD (L139Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3267124	NM_003741.4(CHRD):c.1592A>G (p.His531Arg)	CHRD (H531R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267123	NM_003741.4(CHRD):c.1381C>T (p.Arg461Trp)	CHRD (R91W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267122	NM_003741.4(CHRD):c.1090C>G (p.Pro364Ala)	CHRD (P364A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3267121	NM_003741.4(CHRD):c.68C>T (p.Pro23Leu)	CHRD (P23L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3267120	NM_003741.4(CHRD):c.2033C>T (p.Ala678Val)	CHRD (A308V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267118	NM_003741.4(CHRD):c.728G>T (p.Arg243Leu)	CHRD (R243L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3267117	NM_003741.4(CHRD):c.2035C>A (p.Pro679Thr)	CHRD (P679T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267116	NM_003741.4(CHRD):c.2222T>C (p.Val741Ala)	CHRD (V371A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267115	NM_003741.4(CHRD):c.1999C>T (p.Arg667Trp)	CHRD (R297W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267114	NM_003741.4(CHRD):c.1598C>T (p.Thr533Met)	CHRD (T163M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267113	NM_003741.4(CHRD):c.2765C>T (p.Ser922Leu)	CHRD (S922L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3267112	NM_003741.4(CHRD):c.1775C>T (p.Thr592Met)	CHRD (T222M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3267111	NM_003741.4(CHRD):c.889G>A (p.Val297Ile)	CHRD (V297I)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3267110	NM_003741.4(CHRD):c.1786C>T (p.Arg596Trp)	CHRD (R596W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3238952	GRCh38/hg38 3q27.1-27.2(chr3:183020090-185760128)x1	LOC121048724, LOC121048725 +160 more	Copy number loss	Esodeviation +7 more	GPathogenic
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 3144564	NM_003741.4(CHRD):c.901A>G (p.Thr301Ala)	CHRD (T301A)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3144563	NM_003741.4(CHRD):c.887G>T (p.Gly296Val)	CHRD (G296V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3144562	NM_003741.4(CHRD):c.82G>A (p.Gly28Ser)	CHRD (G28S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3144561	NM_003741.4(CHRD):c.826C>T (p.Arg276Trp)	CHRD (R276W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3144560	NM_003741.4(CHRD):c.820C>G (p.Arg274Gly)	CHRD (R274G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3144559	NM_003741.4(CHRD):c.76G>T (p.Gly26Cys)	CHRD (G26C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3144557	NM_003741.4(CHRD):c.716G>A (p.Arg239Gln)	CHRD (R239Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3144556	NM_003741.4(CHRD):c.512A>T (p.Asp171Val)	CHRD (D171V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3144555	NM_003741.4(CHRD):c.2857G>A (p.Glu953Lys)	CHRD (E952K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144554	NM_003741.4(CHRD):c.2798C>A (p.Thr933Lys)	CHRD (T933K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144553	NM_003741.4(CHRD):c.2384C>T (p.Ala795Val)	CHRD (A795V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144552	NM_003741.4(CHRD):c.2333G>A (p.Arg778Gln)	CHRD (R408Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144551	NM_003741.4(CHRD):c.2252C>T (p.Pro751Leu)	CHRD (P381L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144550	NM_003741.4(CHRD):c.2234C>T (p.Pro745Leu)	CHRD (P375L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144549	NM_003741.4(CHRD):c.2059G>T (p.Ala687Ser)	CHRD (A317S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144548	NM_003741.4(CHRD):c.2057C>T (p.Pro686Leu)	CHRD (P316L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144547	NM_003741.4(CHRD):c.1874G>A (p.Gly625Asp)	CHRD (G625D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144546	NM_003741.4(CHRD):c.1802G>C (p.Gly601Ala)	CHRD (G601A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144545	NM_003741.4(CHRD):c.1741A>G (p.Thr581Ala)	CHRD (T211A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144544	NM_003741.4(CHRD):c.1687T>C (p.Cys563Arg)	CHRD (C193R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144543	NM_003741.4(CHRD):c.1478C>T (p.Ala493Val)	CHRD (A123V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144542	NM_003741.4(CHRD):c.1457C>T (p.Pro486Leu)	CHRD (P486L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144541	NM_003741.4(CHRD):c.1343G>A (p.Ser448Asn)	CHRD (S78N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144540	NM_003741.4(CHRD):c.1114G>C (p.Asp372His)	CHRD (D372H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144539	NM_003741.4(CHRD):c.1053T>A (p.Asn351Lys)	CHRD (N351K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3144538	NM_003741.4(CHRD):c.1015C>A (p.Leu339Ile)	CHRD (L339I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3062712	GRCh37/hg19 3q26.33-27.2(chr3:179391972-185539073)x1	ABCC5, ABCF3 +47 more	Copy number loss	not specified	GPathogenic
Select item 3062690	GRCh37/hg19 3q27.1-27.2(chr3:183822591-185678620)x3	ABCF3, ALG3 +26 more	Copy number gain	not specified	GUncertain significance
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2654326	NM_003741.4(CHRD):c.2640A>G (p.Pro880=)	CHRD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2654325	NM_003741.4(CHRD):c.591C>G (p.Arg197=)	CHRD	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2602349	NM_003741.4(CHRD):c.2171C>T (p.Pro724Leu)	CHRD (P724L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599072	NM_003741.4(CHRD):c.2050G>A (p.Gly684Ser)	CHRD (G314S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591635	NM_003741.4(CHRD):c.2188A>G (p.Thr730Ala)	CHRD (T360A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552703	NM_003741.4(CHRD):c.1845G>T (p.Glu615Asp)	CHRD (E615D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541190	NM_003741.4(CHRD):c.1358T>G (p.Met453Arg)	CHRD (M453R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539580	NM_003741.4(CHRD):c.820C>T (p.Arg274Trp)	CHRD (R274W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2524141	NM_003741.4(CHRD):c.752C>A (p.Ala251Glu)	CHRD (A251E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2480517	NM_003741.4(CHRD):c.503G>C (p.Gly168Ala)	CHRD (G168A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2476448	NM_003741.4(CHRD):c.1511A>G (p.Asn504Ser)	CHRD (N134S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473077	NM_003741.4(CHRD):c.2533G>A (p.Asp845Asn)	CHRD (D845N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465555	NM_003741.4(CHRD):c.2024C>T (p.Ala675Val)	CHRD (A305V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402744	NM_003741.4(CHRD):c.241G>A (p.Ala81Thr)	CHRD (A81T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2401179	NM_003741.4(CHRD):c.1382G>A (p.Arg461Gln)	CHRD (R91Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395826	NM_003741.4(CHRD):c.461A>G (p.Asp154Gly)	CHRD (D154G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2378844	NM_003741.4(CHRD):c.2519G>A (p.Arg840His)	CHRD (R840H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377698	NM_003741.4(CHRD):c.2368C>T (p.Arg790Trp)	CHRD (R420W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374243	NM_003741.4(CHRD):c.2045T>C (p.Val682Ala)	CHRD (V312A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372652	NM_003741.4(CHRD):c.133G>A (p.Val45Ile)	CHRD (V45I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2346767	NM_003741.4(CHRD):c.2609G>A (p.Arg870Gln)	CHRD (R500Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336600	NM_003741.4(CHRD):c.265C>G (p.Arg89Gly)	CHRD (R89G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2332177	NM_003741.4(CHRD):c.2014C>T (p.Pro672Ser)	CHRD (P302S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330419	NM_003741.4(CHRD):c.1361C>T (p.Thr454Ile)	CHRD (T454I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325727	NM_003741.4(CHRD):c.2810G>A (p.Arg937Gln)	CHRD (R937Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317383	NM_003741.4(CHRD):c.2135G>T (p.Arg712Leu)	CHRD (R712L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315448	NM_003741.4(CHRD):c.1090C>T (p.Pro364Ser)	CHRD (P364S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2315431	NM_003741.4(CHRD):c.2494C>T (p.Arg832Trp)	CHRD (R832W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278819	NM_003741.4(CHRD):c.2432G>A (p.Cys811Tyr)	CHRD (C441Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278816	NM_003741.4(CHRD):c.1442C>T (p.Ala481Val)	CHRD (A481V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265289	NM_003741.4(CHRD):c.2692A>G (p.Ile898Val)	CHRD (I898V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257255	NM_003741.4(CHRD):c.2608C>T (p.Arg870Trp)	CHRD (R870W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212196	NM_003741.4(CHRD):c.106A>C (p.Ile36Leu)	CHRD (I36L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2211947	NM_003741.4(CHRD):c.1876A>T (p.Met626Leu)	CHRD (M626L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211468	NM_003741.4(CHRD):c.2066C>T (p.Ala689Val)	CHRD (A319V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206962	NM_003741.4(CHRD):c.616G>T (p.Asp206Tyr)	CHRD (D206Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2041966	NM_003741.4(CHRD):c.1213+16_1213+17dup	CHRD	Duplication (intron variant)	not provided	GBenign
Select item 1710512	GRCh37/hg19 3q26.33-27.2(chr3:181062175-185474509)x1	DCUN1D1, ALG3 +41 more	Copy number loss	not provided	GPathogenic
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1707428	GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3	ABCC5, ABCF3 +118 more	Copy number gain	See cases	GPathogenic
Select item 1703654	GRCh37/hg19 3q27.1-28(chr3:183556940-188083060)	ABCC5, ABCF3 +53 more	Copy number loss	Short stature	GPathogenic
Select item 1527063	GRCh37/hg19 3q27.1-27.3(chr3:183178932-186838042)	ABCC5, ABCF3 +49 more	Copy number loss	not specified	GPathogenic
Select item 1527061	GRCh37/hg19 3q26.33-27.3(chr3:182189525-187212935)	ABCC5, ABCF3 +59 more	Copy number loss	not specified	GPathogenic
Select item 1328104	GRCh37/hg19 3q26.31-27.3(chr3:175119199-187592480)x3	ABCC5, ABCF3 +82 more	Copy number gain	not provided	GPathogenic
Select item 986756	GRCh37/hg19 3q26.33-27.2(chr3:181171210-184706091)x1	ECE2, FAM131A +34 more	Copy number loss	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 980554	GRCh37/hg19 3q27.1-27.3(chr3:182877291-186830759)x1	CLCN2, YEATS2 +52 more	Copy number loss	not provided	GPathogenic
Select item 814505	GRCh37/hg19 3q27.1-27.3(chr3:183789584-186034649)x1	DVL3, ALG3 +28 more	Copy number loss	not provided	GLikely pathogenic
Select item 814497	GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3	FXR1, HTR3D +113 more	Copy number gain	not provided	GPathogenic
Select item 780902	NM_003741.4(CHRD):c.1159G>A (p.Gly387Ser)	CHRD (G17S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 771358	NM_003741.4(CHRD):c.2316A>G (p.Pro772=)	CHRD	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 709674	NM_003741.4(CHRD):c.1824G>A (p.Gln608=)	CHRD	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 709673	NM_003741.4(CHRD):c.903C>G (p.Thr301=)	CHRD	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign

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