340024[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579279	GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1	LOC129993645, LOC129993646 +419 more	Copy number loss	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GPathogenic
Select item 155265	GRCh38/hg38 5p15.33-15.32(chr5:22149-5102586)x1	AHRR, BRD9 +212 more	Copy number loss	See cases	GPathogenic
Select item 154955	GRCh38/hg38 5p15.33-14.3(chr5:22149-21726360)x1	LOC132089229, LOC132089231 +532 more	Copy number loss	See cases	GPathogenic
Select item 154951	GRCh38/hg38 5p15.33-15.32(chr5:22149-5059896)x1	AHRR, BRD9 +211 more	Copy number loss	See cases	GPathogenic
Select item 154867	GRCh38/hg38 5p15.33-14.1(chr5:22149-27611163)x1	LOC129993638, LOC129993639 +559 more	Copy number loss	See cases	GPathogenic
Select item 154579	GRCh38/hg38 5p15.33(chr5:22149-1659135)x3	AHRR, BRD9 +139 more	Copy number gain	See cases	GPathogenic
Select item 154578	GRCh38/hg38 5p15.33-14.1(chr5:22149-26593891)x1	LOC129993741, LOC129993742 +553 more	Copy number loss	See cases	GPathogenic
Select item 152721	GRCh38/hg38 5p15.33-15.32(chr5:22149-4833626)x1	AHRR, BRD9 +202 more	Copy number loss	See cases	GPathogenic
Select item 152692	GRCh38/hg38 5p15.33-14.1(chr5:22149-28589192)x1	ADAMTS16, ADAMTS16-DT +561 more	Copy number loss	See cases	GPathogenic
Select item 152423	GRCh38/hg38 5p15.33-15.1(chr5:22149-16930016)x1	MIR4636, MIR4637 +478 more	Copy number loss	See cases	GPathogenic
Select item 151165	GRCh38/hg38 5p15.33(chr5:22149-3619159)	AHRR, BRD9 +196 more	Copy number gain	See cases	GUncertain significance
Select item 150451	GRCh38/hg38 5p15.33(chr5:22149-2323943)x3	LOC132089303, LOC132090719 +172 more	Copy number gain	See cases	GPathogenic
Select item 149959	GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1	ADAMTS12, ADAMTS16 +697 more	Copy number loss	See cases	GPathogenic
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	LOC123497907, LOC123497908 +1445 more	Copy number gain	See cases	GPathogenic
Select item 149556	GRCh38/hg38 5p15.33-14.3(chr5:22149-21217120)x1	LOC128772264, LOC129389254 +530 more	Copy number loss	See cases	GPathogenic
Select item 149159	GRCh38/hg38 5p15.33-15.32(chr5:22149-6060102)x1	ADAMTS16, ADAMTS16-DT +231 more	Copy number loss	See cases	GPathogenic
Select item 149057	GRCh38/hg38 5p15.33-14.3(chr5:22149-22775295)x1	RETREG1-AS1, ROPN1L +537 more	Copy number loss	See cases	GPathogenic
Select item 149039	GRCh38/hg38 5p15.33-14.1(chr5:22149-27187950)x1	MIR4458HG, MIR4635 +556 more	Copy number loss	See cases	GPathogenic
Select item 148877	GRCh38/hg38 5p15.33(chr5:22149-4260151)x1	AHRR, BRD9 +199 more	Copy number loss	See cases	GPathogenic
Select item 148850	GRCh38/hg38 5p15.33-15.2(chr5:22149-11530391)x1	ADAMTS16, ADAMTS16-DT +384 more	Copy number loss	See cases	GPathogenic
Select item 148819	GRCh38/hg38 5p15.33-15.2(chr5:22149-11429258)x1	ADAMTS16, ADAMTS16-DT +384 more	Copy number loss	See cases	GPathogenic
Select item 148740	GRCh38/hg38 5p15.33-14.2(chr5:22149-23607053)x3	ADAMTS16, ADAMTS16-DT +542 more	Copy number gain	See cases	GPathogenic
Select item 148612	GRCh38/hg38 5p15.33-14.1(chr5:22149-28075106)x3	LOC129993539, LOC129993540 +559 more	Copy number gain	See cases	GPathogenic
Select item 148081	GRCh38/hg38 5p15.33-14.1(chr5:22149-28429241)x1	ADAMTS16, ADAMTS16-DT +561 more	Copy number loss	See cases	GPathogenic
Select item 147970	GRCh38/hg38 5p15.33-14.1(chr5:22149-27485619)x1	LOC129993673, LOC129993674 +559 more	Copy number loss	See cases	GPathogenic
Select item 147809	GRCh38/hg38 5p15.33-15.1(chr5:22149-15851376)x3	LINC02213, LINC02220 +462 more	Copy number gain	See cases	GPathogenic
Select item 147750	GRCh38/hg38 5p15.33(chr5:22149-1429599)x1	AHRR, BRD9 +127 more	Copy number loss	See cases	GPathogenic
Select item 147356	GRCh38/hg38 5p15.33-15.1(chr5:22149-16584575)x1	ADAMTS16, ADAMTS16-DT +473 more	Copy number loss	See cases	GPathogenic
Select item 146365	GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)x1	LOC123493263, LOC123493264 +606 more	Copy number loss	See cases	GPathogenic
Select item 146067	GRCh38/hg38 5p15.33(chr5:22149-1278576)x3	LOC132089294, LOC132089295 +113 more	Copy number gain	See cases	GUncertain significance
Select item 145514	GRCh38/hg38 5p15.33-14.1(chr5:22149-27788616)x1	ADAMTS16, ADAMTS16-DT +559 more	Copy number loss	See cases	GPathogenic
Select item 144314	GRCh38/hg38 5p15.33-15.2(chr5:22149-12819999)x1	ADAMTS16, ADAMTS16-DT +388 more	Copy number loss	See cases	GPathogenic
Select item 144306	GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3	ADAMTS16, ADAMTS16-DT +642 more	Copy number gain	See cases	GPathogenic
Select item 144286	GRCh38/hg38 5p15.33-14.1(chr5:22149-25699605)x1	LOC129993669, LOC129993670 +552 more	Copy number loss	See cases	GPathogenic
Select item 59573	GRCh38/hg38 5p15.33-15.2(chr5:22149-10044087)x1	ADAMTS16, ADAMTS16-DT +318 more	Copy number loss	See cases	GPathogenic
Select item 59557	GRCh38/hg38 5p15.33(chr5:22149-3556942)x1	AHRR, BRD9 +194 more	Copy number loss	See cases	GPathogenic
Select item 59556	GRCh38/hg38 5p15.33-15.2(chr5:22149-12004091)x1	LOC129993681, LOC129993682 +384 more	Copy number loss	See cases	GPathogenic
Select item 59555	GRCh38/hg38 5p15.33-14.3(chr5:22149-23132046)x1	LOC129993650, LOC129993651 +538 more	Copy number loss	See cases	GPathogenic
Select item 59554	GRCh38/hg38 5p15.33-15.31(chr5:22149-7213275)x1	ADAMTS16, ADAMTS16-DT +272 more	Copy number loss	See cases	GPathogenic
Select item 57221	GRCh38/hg38 5p15.33(chr5:22149-3404244)x1	AHRR, BRD9 +190 more	Copy number loss	See cases	GPathogenic
Select item 57057	GRCh38/hg38 5p15.33(chr5:22149-1826256)x1	AHRR, BRD9 +150 more	Copy number loss	See cases	GPathogenic
Select item 59576	GRCh38/hg38 5p15.33-14.3(chr5:22419-19280892)x1	LOC129993700, LOC129993701 +521 more	Copy number loss	See cases	GPathogenic
Select item 59578	GRCh38/hg38 5p15.33(chr5:37694-2913205)x1	LOC132090723, LOC132090724 +182 more	Copy number loss	See cases	GPathogenic
Select item 59577	GRCh38/hg38 5p15.33(chr5:37694-2746908)x1	AHRR, BRD9 +180 more	Copy number loss	See cases	GPathogenic
Select item 161034	GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1	ADAMTS16, ADAMTS16-DT +461 more	Copy number loss	See cases	GPathogenic
Select item 146618	GRCh38/hg38 5p15.33-13.3(chr5:49978-30112535)x1	LOC129993547, LOC129993548 +574 more	Copy number loss	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	CLPTM1L, CMBL +953 more	Copy number gain	See cases	GPathogenic
Select item 57400	GRCh38/hg38 5p15.33(chr5:49978-4014647)x1	AHRR, BRD9 +196 more	Copy number loss	See cases	GPathogenic
Select item 32815	GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1	LOC132089251, LOC132089252 +461 more	Copy number loss	See cases	GPathogenic
Select item 59601	GRCh38/hg38 5p15.33-15.32(chr5:54839-5603401)x1	ADAMTS16, ADAMTS16-DT +226 more	Copy number loss	See cases	GPathogenic
Select item 58068	GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3	LOC126807356, LOC128772262 +696 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	LOC129993840, LOC129993841 +952 more	Copy number gain	See cases	GPathogenic
Select item 154630	GRCh38/hg38 5p15.33-15.32(chr5:95128-5834551)x1	ADAMTS16, ADAMTS16-DT +227 more	Copy number loss	See cases	GPathogenic
Select item 154011	GRCh38/hg38 5p15.33-15.2(chr5:113461-14684362)x1	LOC129993625, LOC129993626 +443 more	Copy number loss	See cases	GPathogenic
Select item 153600	GRCh38/hg38 5p15.33-15.31(chr5:113461-8875933)x1	ADAMTS16, ADAMTS16-DT +300 more	Copy number loss	See cases	GPathogenic
Select item 153553	GRCh38/hg38 5p15.33-15.32(chr5:113461-6243977)x1	PDCD6-AHRR, PDCD6-DT +231 more	Copy number loss	See cases	GPathogenic
Select item 153462	GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1	ADAMTS12, ADAMTS16 +657 more	Copy number loss	See cases	GPathogenic
Select item 148722	GRCh38/hg38 5p15.33(chr5:821764-1271935)x3	BRD9, LINC02982 +17 more	Copy number gain	See cases	GLikely benign
Select item 146682	GRCh38/hg38 5p15.33(chr5:924086-1544344)x3	CLPTM1L, LINC01511 +36 more	Copy number gain	See cases	GUncertain significance
Select item 150830	GRCh38/hg38 5p15.33(chr5:965217-1528677)x3	CLPTM1L, LINC01511 +33 more	Copy number gain	See cases	GLikely benign
Select item 146059	GRCh38/hg38 5p15.33(chr5:1085824-1315406)x3	LOC110806263, LOC110806264 +10 more	Copy number gain	See cases	GUncertain significance
Select item 1241136	NC_000005.10:g.1201349A>G	SLC6A19	Single nucleotide variant	not provided	GBenign
Select item 1179911	NC_000005.10:g.1201391C>T	SLC6A19	Single nucleotide variant	not provided	GBenign
Select item 1279037	NM_001003841.3(SLC6A19):c.-8C>T	SLC6A19	Single nucleotide variant (5 prime UTR variant)	SLC6A19-related condition +1 more	GBenign
Select item 1585067	NM_001003841.3(SLC6A19):c.4G>T (p.Val2Leu)	SLC6A19 (V2L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1594209	NM_001003841.3(SLC6A19):c.12C>T (p.Leu4=)	SLC6A19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2607857	NM_001003841.3(SLC6A19):c.13G>C (p.Val5Leu)	SLC6A19 (V5L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1991798	NM_001003841.3(SLC6A19):c.13G>A (p.Val5Met)	SLC6A19 (V5M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2184011	NM_001003841.3(SLC6A19):c.24C>A (p.Asn8Lys)	SLC6A19 (N8K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2350115	NM_001003841.3(SLC6A19):c.25C>A (p.Pro9Thr)	SLC6A19 (P9T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410830	NM_001003841.3(SLC6A19):c.26C>T (p.Pro9Leu)	SLC6A19 (P9L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1298980	NM_001003841.3(SLC6A19):c.27C>T (p.Pro9=)	SLC6A19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1525667	NM_001003841.3(SLC6A19):c.28G>A (p.Gly10Ser)	SLC6A19 (G10S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1900303	NM_001003841.3(SLC6A19):c.29G>A (p.Gly10Asp)	SLC6A19 (G10D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1557526	NM_001003841.3(SLC6A19):c.36C>T (p.Asp12=)	SLC6A19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1914461	NM_001003841.3(SLC6A19):c.37G>A (p.Ala13Thr)	SLC6A19 (A13T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2155189	NM_001003841.3(SLC6A19):c.40C>T (p.Arg14Trp)	SLC6A19 (R14W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 445301	NM_001003841.3(SLC6A19):c.41G>A (p.Arg14Gln)	SLC6A19 (R14Q)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 726243	NM_001003841.3(SLC6A19):c.45C>G (p.Ile15Met)	SLC6A19 (I15M)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 2179647	NM_001003841.3(SLC6A19):c.47C>T (p.Pro16Leu)	SLC6A19 (P16L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1529487	NM_001003841.3(SLC6A19):c.48G>A (p.Pro16=)	SLC6A19	Single nucleotide variant (synonymous variant)	Hyperglycinuria +3 more	GBenign/Likely benign
Select item 2673002	NM_001003841.3(SLC6A19):c.56C>T (p.Ala19Val)	SLC6A19 (A19V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2070044	NM_001003841.3(SLC6A19):c.70A>G (p.Ile24Val)	SLC6A19 (I24V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2030808	NM_001003841.3(SLC6A19):c.71T>C (p.Ile24Thr)	SLC6A19 (I24T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2081418	NM_001003841.3(SLC6A19):c.72C>T (p.Ile24=)	SLC6A19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2074363	NM_001003841.3(SLC6A19):c.73G>A (p.Glu25Lys)	SLC6A19 (E25K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2296358	NM_001003841.3(SLC6A19):c.79G>C (p.Glu27Gln)	SLC6A19 (E27Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2915750	NM_001003841.3(SLC6A19):c.83A>T (p.Glu28Val)	SLC6A19 (E28V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2029718	NM_001003841.3(SLC6A19):c.84G>A (p.Glu28=)	SLC6A19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2186510	NM_001003841.3(SLC6A19):c.94C>T (p.Arg32Trp)	SLC6A19 (R32W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1415571	NM_001003841.3(SLC6A19):c.95G>A (p.Arg32Gln)	SLC6A19 (R32Q)	Single nucleotide variant (missense variant)	Hyperglycinuria +3 more	GUncertain significance
Select item 2078613	NM_001003841.3(SLC6A19):c.97C>A (p.Pro33Thr)	SLC6A19 (P33T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1517264	NM_001003841.3(SLC6A19):c.98C>T (p.Pro33Leu)	SLC6A19 (P33L)	Single nucleotide variant (missense variant)	Neutral 1 amino acid transport defect +3 more	GUncertain significance
Select item 729631	NM_001003841.3(SLC6A19):c.114G>A (p.Lys38=)	SLC6A19	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1901028	NM_001003841.3(SLC6A19):c.117G>T (p.Ala39=)	SLC6A19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 767990	NM_001003841.3(SLC6A19):c.117G>A (p.Ala39=)	SLC6A19	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 1474965	NM_001003841.3(SLC6A19):c.125T>C (p.Met42Thr)	SLC6A19 (M42T)	Single nucleotide variant (missense variant)	Neutral 1 amino acid transport defect +3 more	GUncertain significance
Select item 2155203	NM_001003841.3(SLC6A19):c.132C>T (p.Thr44=)	SLC6A19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 208186	NM_001003841.3(SLC6A19):c.146G>A (p.Cys49Tyr)	SLC6A19 (C49Y)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2421675	NM_001003841.3(SLC6A19):c.147C>T (p.Cys49=)	SLC6A19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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