ClinVar for Gene (Select 9619) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3129584	NM_016818.3(ABCG1):c.949A>T (p.Thr317Ser)	ABCG1 (T314S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129574	NM_016818.3(ABCG1):c.735C>G (p.Ser245Arg)	ABCG1 (S223R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129570	NM_016818.3(ABCG1):c.71C>T (p.Thr24Met)	ABCG1 (T21M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129561	NM_016818.3(ABCG1):c.349A>C (p.Met117Leu)	ABCG1 (M95L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129554	NM_016818.3(ABCG1):c.1666G>A (p.Val556Met)	ABCG1 (V567M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129553	NM_016818.3(ABCG1):c.1483G>A (p.Val495Met)	ABCG1 (V492M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129546	NM_016818.3(ABCG1):c.1240C>T (p.Arg414Cys)	ABCG1 (R411C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129538	NM_016818.3(ABCG1):c.1109G>A (p.Arg370Gln)	ABCG1 (R372Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062428	GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	KCNJ15, KCNJ6 +118 more	Copy number loss	not specified	GPathogenic
Select item 3062426	GRCh37/hg19 21q22.3(chr21:43369956-48097372)x1	DNMT3L, PRMT2 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	COL6A1, COL6A2 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062421	GRCh37/hg19 21q22.3(chr21:43603041-48097372)x1	COL18A1, S100B +72 more	Copy number loss	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	CBS, ITGB2 +186 more	Copy number gain	not specified	GPathogenic
Select item 3060995	NM_016818.3(ABCG1):c.339G>A (p.Leu113=)	ABCG1	Single nucleotide variant (synonymous variant)	ABCG1-related condition	GBenign
Select item 3059271	NM_016818.3(ABCG1):c.-38GCC[9]	ABCG1	Microsatellite (5 prime UTR variant +1 more)	ABCG1-related condition	GBenign
Select item 3059244	NM_016818.3(ABCG1):c.-38GCC[8]	ABCG1	Microsatellite (5 prime UTR variant +1 more)	ABCG1-related condition	GBenign
Select item 3056609	NM_016818.3(ABCG1):c.538-6C>T	ABCG1	Single nucleotide variant (intron variant)	ABCG1-related condition	GBenign
Select item 3053710	NM_016818.3(ABCG1):c.-38GCC[6]	ABCG1	Microsatellite (5 prime UTR variant +1 more)	ABCG1-related condition	GBenign
Select item 3053330	NM_016818.3(ABCG1):c.-38GCC[15]	ABCG1	Microsatellite (5 prime UTR variant +1 more)	ABCG1-related condition	GBenign
Select item 3052439	NM_016818.3(ABCG1):c.771G>A (p.Ser257=)	ABCG1	Single nucleotide variant (synonymous variant)	ABCG1-related condition	GLikely benign
Select item 3049998	NM_016818.3(ABCG1):c.1173G>A (p.Thr391=)	ABCG1	Single nucleotide variant (synonymous variant)	ABCG1-related condition	GLikely benign
Select item 3047646	NM_016818.3(ABCG1):c.-38GCC[5]	ABCG1	Microsatellite (5 prime UTR variant +1 more)	ABCG1-related condition	GLikely benign
Select item 3047290	NM_016818.3(ABCG1):c.609G>A (p.Ala203=)	ABCG1	Single nucleotide variant (synonymous variant)	ABCG1-related condition	GLikely benign
Select item 3046123	NM_016818.3(ABCG1):c.183G>A (p.Thr61=)	ABCG1	Single nucleotide variant (synonymous variant)	ABCG1-related condition	GLikely benign
Select item 3044875	NM_016818.3(ABCG1):c.138G>A (p.Thr46=)	ABCG1	Single nucleotide variant (synonymous variant)	ABCG1-related condition	GLikely benign
Select item 3044829	NM_016818.3(ABCG1):c.1722C>T (p.Phe574=)	ABCG1	Single nucleotide variant (synonymous variant)	ABCG1-related condition	GBenign
Select item 3044620	NM_016818.3(ABCG1):c.9T>C (p.Cys3=)	ABCG1	Single nucleotide variant (synonymous variant +1 more)	ABCG1-related condition	GBenign
Select item 3041521	NM_016818.3(ABCG1):c.-38GCC[11]	ABCG1	Microsatellite (5 prime UTR variant +1 more)	ABCG1-related condition	GBenign
Select item 3039239	NM_016818.3(ABCG1):c.1842C>T (p.Asp614=)	ABCG1	Single nucleotide variant (synonymous variant)	ABCG1-related condition	GLikely benign
Select item 3039074	NM_016818.3(ABCG1):c.1344C>T (p.Phe448=)	ABCG1	Single nucleotide variant (synonymous variant)	ABCG1-related condition	GLikely benign
Select item 3037791	NM_016818.3(ABCG1):c.993C>T (p.Gly331=)	ABCG1	Single nucleotide variant (synonymous variant)	ABCG1-related condition	GBenign
Select item 3037187	NM_016818.3(ABCG1):c.-38GCC[12]	ABCG1	Microsatellite (5 prime UTR variant +1 more)	ABCG1-related condition	GBenign
Select item 3035683	NM_207627.2(ABCG1):c.12G>A (p.Thr4=)	ABCG1	Single nucleotide variant (synonymous variant +1 more)	ABCG1-related condition	GBenign
Select item 3035558	NM_016818.3(ABCG1):c.1072G>A (p.Gly358Arg)	ABCG1 (G336R +4 more)	Single nucleotide variant (missense variant)	ABCG1-related condition	GBenign
Select item 2685664	GRCh37/hg19 21q22.2-22.3(chr21:40681179-48097372)x1	ABCG1, ADARB1 +92 more	Copy number loss	not provided	GPathogenic
Select item 2684917	GRCh37/hg19 21q22.3(chr21:43687354-48097372)x3	ABCG1, ADARB1 +72 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684914	GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3	ABCG1, ADARB1 +148 more	Copy number gain	not provided	GPathogenic
Select item 2684910	GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	ABCG1, ADAMTS1 +170 more	Copy number gain	not provided	GPathogenic
Select item 2652705	NM_016818.3(ABCG1):c.1224G>A (p.Ser408=)	ABCG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2598312	NM_016818.3(ABCG1):c.1108C>T (p.Arg370Trp)	ABCG1 (R370W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525429	NM_016818.3(ABCG1):c.886G>A (p.Val296Met)	ABCG1 (V274M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512757	NM_016818.3(ABCG1):c.1122+21A>C	ABCG1 (L381F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484545	NM_016818.3(ABCG1):c.664C>T (p.Arg222Cys)	ABCG1 (R200C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455244	NM_016818.3(ABCG1):c.893G>A (p.Arg298Gln)	ABCG1 (R295Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422361	NC_000021.8:g.(?_43160998)_(47754702_?)del	ABCG1, ADARB1 +74 more	Deletion	Progressive myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 2408632	NM_016818.3(ABCG1):c.137C>T (p.Thr46Met)	ABCG1 (T43M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292944	NM_016818.3(ABCG1):c.509C>T (p.Pro170Leu)	ABCG1 (P148L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292327	NM_016818.3(ABCG1):c.1723G>A (p.Asp575Asn)	ABCG1 (D553N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255484	NM_207627.2(ABCG1):c.22A>G (p.Thr8Ala)	ABCG1 (T8A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251524	NM_016818.3(ABCG1):c.1044G>A (p.Met348Ile)	ABCG1 (M350I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225718	NM_016818.3(ABCG1):c.665G>A (p.Arg222His)	ABCG1 (R224H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216400	NM_016818.3(ABCG1):c.106G>A (p.Val36Met)	ABCG1 (V33M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807697	GRCh37/hg19 21q22.2-22.3(chr21:42046399-45109188)x1	ABCG1, BACE2 +28 more	Copy number loss	not provided	GPathogenic
Select item 1705932	GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3	DOP1B, DSCAM +217 more	Copy number gain	Complete trisomy 21 syndrome	GPathogenic
Select item 1703616	GRCh37/hg19 21q22.3(chr21:42679089-48097372)	ABCG1, ADARB1 +81 more	Copy number loss	Delayed speech and language development	GPathogenic
Select item 1526720	GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)	ABCG1, ADARB1 +83 more	Copy number loss	not specified	GPathogenic
Select item 1526706	GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)	FAM3B, FTCD +216 more	Copy number gain	not specified	GPathogenic
Select item 1526705	GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372)	KRTAP13-1, KRTAP13-2 +216 more	Copy number gain	not specified	GPathogenic
Select item 1458311	NC_000021.8:g.(?_43160998)_(47865240_?)del	AGPAT3, ADARB1 +74 more	Deletion	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GPathogenic
Select item 1409580	NC_000021.8:g.(?_43160998)_(47865240_?)dup	ABCG1, ADARB1 +74 more	Duplication	Cataract 9 multiple types +2 more	GUncertain significance
Select item 1341200	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 1321998	GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3	ABCG1, ADAMTS1 +220 more	Copy number gain	See cases	GPathogenic
Select item 983157	GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 816508	GRCh37/hg19 21q22.2-22.3(chr21:42044877-48100155)x3	ABCG1, ADARB1 +84 more	Copy number gain	See cases	GPathogenic
Select item 816172	GRCh37/hg19 21q22.3(chr21:43472147-48097372)x1	ABCG1, ADARB1 +73 more	Copy number loss	not provided	GPathogenic
Select item 816166	GRCh37/hg19 21q22.13-22.3(chr21:39410438-45171756)x1	CRYAA, GET1 +44 more	Copy number loss	not provided	GPathogenic
Select item 786373	NM_016818.3(ABCG1):c.1368G>C (p.Ala456=)	ABCG1	Single nucleotide variant (synonymous variant)	ABCG1-related condition +1 more	GBenign
Select item 741423	NM_016818.3(ABCG1):c.1641C>T (p.Ser547=)	ABCG1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 740389	NM_016818.3(ABCG1):c.1929C>T (p.Leu643=)	ABCG1	Single nucleotide variant (synonymous variant)	ABCG1-related condition +1 more	GLikely benign
Select item 719214	NM_016818.3(ABCG1):c.286+4G>A	ABCG1	Single nucleotide variant (intron variant)	ABCG1-related condition +1 more	GBenign
Select item 711761	NM_016818.3(ABCG1):c.447C>G (p.Pro149=)	ABCG1	Single nucleotide variant (synonymous variant)	ABCG1-related condition +1 more	GBenign
Select item 686229	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 635899	Single allele	ABCG1, BACE2 +10 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 626294	Single allele	ABCG1, ADARB1 +77 more	Duplication	not provided	GLikely pathogenic
Select item 625618	GRCh37/hg19 21q22.2-22.3(chr21:41537095-46914745)	ABCG1, ADARB1 +70 more	Copy number loss	not provided	GPathogenic
Select item 564676	GRCh37/hg19 21q22.2-22.3(chr21:42335622-48097372)x1	ABCG1, ADARB1 +83 more	Copy number loss	not provided	GPathogenic
Select item 564674	GRCh37/hg19 21q22.3(chr21:43687353-48097372)x1	ABCG1, ADARB1 +72 more	Copy number loss	not provided	GPathogenic
Select item 564655	GRCh37/hg19 21q22.3(chr21:43415139-43845652)x3	UBASH3A, UMODL1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 443979	GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372)	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 443778	GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1	ABCG1, ADARB1 +108 more	Copy number loss	See cases	GPathogenic
Select item 443167	GRCh37/hg19 21q22.3(chr21:43498966-48097372)x1	ABCG1, ADARB1 +73 more	Copy number loss	See cases	GPathogenic
Select item 443072	GRCh37/hg19 21q22.2-22.3(chr21:41254101-48097372)x1	DSCAM, FAM3B +85 more	Copy number loss	See cases	GPathogenic
Select item 443002	GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1	ABCG1, ADARB1 +101 more	Copy number loss	See cases	GPathogenic
Select item 394309	GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3	SPATC1L, SUMO3 +217 more	Copy number gain	See cases	GPathogenic
Select item 394204	GRCh37/hg19 21q22.3(chr21:43690022-43743467)x3	ABCG1, TFF3	Copy number gain	See cases	GUncertain significance
Select item 394099	GRCh37/hg19 21q22.13-22.3(chr21:38790552-43619940)x1	ABCG1, B3GALT5 +28 more	Copy number loss	See cases	GPathogenic
Select item 253512	GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1	ABCG1, ADAMTS1 +216 more	Copy number loss	See cases	GPathogenic
Select item 253477	GRCh37/hg19 21q22.2-22.3(chr21:39841248-44652723)x3	PKNOX1, TMPRSS3 +37 more	Copy number gain	See cases	GPathogenic
Select item 253403	GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	See cases	GPathogenic
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC130066574, LOC130066575 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155316	GRCh38/hg38 21q22.3(chr21:41368412-42556043)x3	ABCG1, C2CD2 +114 more	Copy number gain	See cases	GLikely benign
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC130066796, LOC130066797 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155268	GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1	AATBC, ABCG1 +340 more	Copy number loss	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC130066513, LOC130066514 +1160 more	Copy number gain	See cases	GPathogenic
Select item 154583	GRCh38/hg38 21q22.2-22.3(chr21:39375937-44246148)x1	AATBC, ABCG1 +268 more	Copy number loss	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC129391220, LOC129391221 +1156 more	Copy number loss	See cases	GPathogenic
Select item 154214	GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1	LOC130066848, LOC130066849 +482 more	Copy number loss	See cases	GPathogenic

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