ClinVar for Gene (Select 57805) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3263745	NM_001393997.1(CCAR2):c.686C>G (p.Thr229Ser)	CCAR2 (T229S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263744	NM_001393997.1(CCAR2):c.1488T>G (p.Asp496Glu)	CCAR2 (D496E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263743	NM_001393997.1(CCAR2):c.631C>T (p.Pro211Ser)	CCAR2 (P211S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263742	NM_001393997.1(CCAR2):c.694A>G (p.Thr232Ala)	CCAR2 (T232A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263741	NM_001393997.1(CCAR2):c.2280G>C (p.Gln760His)	CCAR2 (Q760H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260940	NM_018688.6(BIN3):c.712G>A (p.Glu238Lys)	BIN3, CCAR2 (E190K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3260939	NM_018688.6(BIN3):c.704G>A (p.Arg235Gln)	BIN3, CCAR2 (R235Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3138198	NM_001393997.1(CCAR2):c.908A>G (p.Asp303Gly)	CCAR2 (D303G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138197	NM_001393997.1(CCAR2):c.801C>G (p.Phe267Leu)	CCAR2 (F267L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138196	NM_001393997.1(CCAR2):c.640G>T (p.Ala214Ser)	CCAR2 (A214S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138195	NM_001393997.1(CCAR2):c.2746A>G (p.Lys916Glu)	CCAR2 (K915E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138194	NM_001393997.1(CCAR2):c.2633C>T (p.Ala878Val)	CCAR2 (A877V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138193	NM_001393997.1(CCAR2):c.2573C>T (p.Ala858Val)	CCAR2 (A857V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138192	NM_001393997.1(CCAR2):c.2509G>C (p.Glu837Gln)	CCAR2 (E837Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138191	NM_001393997.1(CCAR2):c.1820C>T (p.Pro607Leu)	CCAR2 (P607L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138190	NM_001393997.1(CCAR2):c.1723A>G (p.Lys575Glu)	CCAR2 (K575E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138189	NM_001393997.1(CCAR2):c.1702G>A (p.Val568Met)	CCAR2 (V568M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138188	NM_001393997.1(CCAR2):c.1673A>G (p.Lys558Arg)	CCAR2 (K558R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138187	NM_001393997.1(CCAR2):c.1530C>G (p.Ile510Met)	CCAR2 (I510M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3138186	NM_001393997.1(CCAR2):c.1510C>G (p.Pro504Ala)	CCAR2 (P504A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138185	NM_001393997.1(CCAR2):c.1408G>A (p.Ala470Thr)	CCAR2 (A470T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138184	NM_001393997.1(CCAR2):c.1198A>T (p.Thr400Ser)	CCAR2 (T400S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3060419	NM_001393997.1(CCAR2):c.1609-5A>G	CCAR2	Single nucleotide variant (intron variant)	CCAR2-related disorder	GBenign
Select item 3060085	NM_001393997.1(CCAR2):c.924G>A (p.Ser308=)	CCAR2	Single nucleotide variant (synonymous variant)	CCAR2-related disorder	GBenign
Select item 3059932	NM_001393997.1(CCAR2):c.84C>T (p.Gly28=)	CCAR2	Single nucleotide variant (synonymous variant)	CCAR2-related disorder	GBenign
Select item 3059635	NM_001393997.1(CCAR2):c.1407T>C (p.Asp469=)	CCAR2	Single nucleotide variant (synonymous variant)	CCAR2-related disorder	GBenign
Select item 3059619	NM_001393997.1(CCAR2):c.150+8C>G	CCAR2	Single nucleotide variant (intron variant)	CCAR2-related disorder	GBenign
Select item 3058620	NM_001393997.1(CCAR2):c.1116C>T (p.Asp372=)	CCAR2	Single nucleotide variant (synonymous variant)	CCAR2-related disorder	GLikely benign
Select item 3056349	NM_001393997.1(CCAR2):c.705-8dup	CCAR2	Duplication (intron variant)	CCAR2-related disorder	GLikely benign
Select item 3053112	NM_001393997.1(CCAR2):c.519T>G (p.Leu173=)	CCAR2	Single nucleotide variant (synonymous variant)	CCAR2-related disorder	GLikely benign
Select item 3051469	NM_001393997.1(CCAR2):c.33G>A (p.Pro11=)	CCAR2	Single nucleotide variant (synonymous variant)	CCAR2-related disorder	GLikely benign
Select item 3049038	NM_001393997.1(CCAR2):c.1530C>T (p.Ile510=)	CCAR2	Single nucleotide variant (synonymous variant)	CCAR2-related disorder	GLikely benign
Select item 3048593	NM_001393997.1(CCAR2):c.876C>T (p.Asp292=)	CCAR2	Single nucleotide variant (synonymous variant)	CCAR2-related disorder	GLikely benign
Select item 3048365	NM_001393997.1(CCAR2):c.2541C>T (p.Phe847=)	CCAR2	Single nucleotide variant (synonymous variant)	CCAR2-related disorder	GLikely benign
Select item 3048106	NM_001393997.1(CCAR2):c.2522-3C>T	CCAR2	Single nucleotide variant (intron variant)	CCAR2-related disorder	GLikely benign
Select item 3045813	NM_001393997.1(CCAR2):c.2373G>A (p.Lys791=)	CCAR2	Single nucleotide variant (synonymous variant)	CCAR2-related disorder	GLikely benign
Select item 3044821	NM_001393997.1(CCAR2):c.1479G>A (p.Thr493=)	CCAR2	Single nucleotide variant (synonymous variant)	CCAR2-related disorder	GLikely benign
Select item 3044794	NM_001393997.1(CCAR2):c.2316C>T (p.Pro772=)	CCAR2	Single nucleotide variant (synonymous variant)	CCAR2-related disorder	GLikely benign
Select item 3043228	NM_001393997.1(CCAR2):c.2457G>A (p.Ala819=)	CCAR2	Single nucleotide variant (synonymous variant)	CCAR2-related disorder	GBenign
Select item 3041953	NM_001393997.1(CCAR2):c.1730A>C (p.Glu577Ala)	CCAR2 (E577A)	Single nucleotide variant (missense variant)	CCAR2-related disorder	GLikely benign
Select item 3041917	NM_001393997.1(CCAR2):c.1014G>A (p.Thr338=)	CCAR2	Single nucleotide variant (synonymous variant)	CCAR2-related disorder	GLikely benign
Select item 3040793	NM_001393997.1(CCAR2):c.1062A>G (p.Glu354=)	CCAR2	Single nucleotide variant (synonymous variant)	CCAR2-related disorder	GLikely benign
Select item 3039673	NM_001393997.1(CCAR2):c.1821G>A (p.Pro607=)	CCAR2	Single nucleotide variant (synonymous variant)	CCAR2-related disorder	GBenign
Select item 3038827	NM_001393997.1(CCAR2):c.1809G>C (p.Gln603His)	CCAR2 (Q603H)	Single nucleotide variant (missense variant)	CCAR2-related disorder	GBenign
Select item 3037246	NM_001393997.1(CCAR2):c.1218C>T (p.Ala406=)	CCAR2	Single nucleotide variant (synonymous variant)	CCAR2-related disorder	GBenign
Select item 3036073	NM_001393997.1(CCAR2):c.1253G>A (p.Arg418Gln)	CCAR2 (R418Q)	Single nucleotide variant (missense variant)	CCAR2-related disorder	GLikely benign
Select item 3035618	NM_001393997.1(CCAR2):c.1911C>T (p.Gly637=)	CCAR2	Single nucleotide variant (synonymous variant)	CCAR2-related disorder	GBenign
Select item 2685301	GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1	HR, MIR320A +95 more	Copy number loss	not provided	GPathogenic
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2671605	Single allele	BIN3, BMP1 +24 more	Duplication	not provided	GUncertain significance
Select item 2658472	NM_001393997.1(CCAR2):c.1845+3G>A	CCAR2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2658471	NM_001393997.1(CCAR2):c.1203G>A (p.Lys401=)	CCAR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2614403	NM_001393997.1(CCAR2):c.2378G>T (p.Gly793Val)	CCAR2 (G792V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607750	NM_001393997.1(CCAR2):c.118A>C (p.Thr40Pro)	CCAR2 (T40P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590929	NM_001393997.1(CCAR2):c.1382C>T (p.Thr461Met)	CCAR2 (T461M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 2558980	NM_001393997.1(CCAR2):c.1781T>A (p.Val594Glu)	CCAR2 (V594E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549928	NM_001393997.1(CCAR2):c.1775A>G (p.Glu592Gly)	CCAR2 (E592G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527663	NM_001393997.1(CCAR2):c.2596G>A (p.Val866Ile)	CCAR2 (V865I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527495	NM_001393997.1(CCAR2):c.2204G>A (p.Arg735Gln)	CCAR2 (R734Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523127	NM_001393997.1(CCAR2):c.2653C>T (p.Leu885Phe)	CCAR2 (L884F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519722	NM_001393997.1(CCAR2):c.1732G>A (p.Ala578Thr)	CCAR2 (A578T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514125	NM_018688.6(BIN3):c.754G>A (p.Asp252Asn)	BIN3, CCAR2 (D252N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2511469	NM_001393997.1(CCAR2):c.1339G>C (p.Ala447Pro)	CCAR2 (A447P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499083	GRCh37/hg19 8p21.3-21.2(chr8:21925038-26372195)x1	ADAM28, ADAM7 +46 more	Copy number loss	not provided	GLikely pathogenic
Select item 2481850	NM_001393997.1(CCAR2):c.1060G>C (p.Glu354Gln)	CCAR2 (E354Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478400	NM_001393997.1(CCAR2):c.1466C>A (p.Thr489Lys)	CCAR2 (T489K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463970	NM_001393997.1(CCAR2):c.2626C>T (p.Arg876Trp)	CCAR2 (R876W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462179	NM_018688.6(BIN3):c.697C>T (p.Arg233Trp)	BIN3, CCAR2 (R185W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2393890	NM_001393997.1(CCAR2):c.2209A>T (p.Ser737Cys)	CCAR2 (S736C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391814	NM_018688.6(BIN3):c.739C>T (p.Leu247Phe)	BIN3, CCAR2 (L199F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2391156	NM_001393997.1(CCAR2):c.1303A>G (p.Thr435Ala)	CCAR2 (T435A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387786	NM_001393997.1(CCAR2):c.2756C>T (p.Pro919Leu)	CCAR2 (P919L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381503	NM_001393997.1(CCAR2):c.1478C>T (p.Thr493Met)	CCAR2 (T493M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2370399	NM_001393997.1(CCAR2):c.1510C>A (p.Pro504Thr)	CCAR2 (P504T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367368	NM_001393997.1(CCAR2):c.1252C>T (p.Arg418Trp)	CCAR2 (R418W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365073	NM_001393997.1(CCAR2):c.2714G>A (p.Arg905Gln)	CCAR2 (R904Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362084	NM_001393997.1(CCAR2):c.802C>A (p.Pro268Thr)	CCAR2 (P268T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356604	NM_018688.6(BIN3):c.688G>A (p.Asp230Asn)	BIN3, CCAR2 (D182N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2337736	NM_001393997.1(CCAR2):c.2212G>A (p.Ala738Thr)	CCAR2 (A737T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332856	NM_001393997.1(CCAR2):c.1902A>C (p.Lys634Asn)	CCAR2 (K634N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326873	NM_001393997.1(CCAR2):c.1816G>A (p.Gly606Ser)	CCAR2 (G606S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313722	NM_001393997.1(CCAR2):c.2740G>A (p.Val914Met)	CCAR2 (V913M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287360	NM_001393997.1(CCAR2):c.593A>C (p.Tyr198Ser)	CCAR2 (Y198S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279244	NM_001393997.1(CCAR2):c.523C>G (p.Leu175Val)	CCAR2 (L175V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273609	NM_001393997.1(CCAR2):c.1508C>T (p.Pro503Leu)	CCAR2 (P503L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272282	NM_001393997.1(CCAR2):c.821C>A (p.Ser274Tyr)	CCAR2 (S274Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272246	NM_001393997.1(CCAR2):c.2417A>G (p.Asn806Ser)	CCAR2 (N805S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271759	NM_018688.6(BIN3):c.686C>A (p.Ser229Tyr)	BIN3, CCAR2 (S181Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2254654	NM_001393997.1(CCAR2):c.1433C>T (p.Ser478Phe)	CCAR2 (S478F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246046	NM_001393997.1(CCAR2):c.2348T>C (p.Leu783Pro)	CCAR2 (L782P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242177	NM_001393997.1(CCAR2):c.1346A>G (p.Glu449Gly)	CCAR2 (E449G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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