ClinVar for Gene (Select 8987) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3323205	NM_003943.5(STBD1):c.161A>G (p.Gln54Arg)	FAM47E-STBD1, STBD1 (Q54R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323204	NM_003943.5(STBD1):c.70C>T (p.Arg24Trp)	FAM47E-STBD1, STBD1 (R24W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323203	NM_003943.5(STBD1):c.44C>T (p.Ala15Val)	FAM47E-STBD1, STBD1 (A15V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171154	NM_003943.5(STBD1):c.708A>C (p.Arg236Ser)	FAM47E-STBD1, STBD1 (R236S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3171153	NM_003943.5(STBD1):c.52C>A (p.Leu18Ile)	FAM47E-STBD1, STBD1 (L18I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171152	NM_003943.5(STBD1):c.500C>A (p.Thr167Lys)	FAM47E-STBD1, STBD1 (T167K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3171151	NM_003943.5(STBD1):c.284C>T (p.Ala95Val)	FAM47E-STBD1, STBD1 (A95V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3171150	NM_003943.5(STBD1):c.101G>C (p.Gly34Ala)	FAM47E-STBD1, STBD1 (G34A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062778	GRCh37/hg19 4q13.3-21.21(chr4:74822261-79345650)x1	AREG, ART3 +37 more	Copy number loss	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2622594	NM_003943.5(STBD1):c.971T>C (p.Val324Ala)	FAM47E-STBD1, STBD1 (V324A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2552956	NM_003943.5(STBD1):c.586G>T (p.Asp196Tyr)	FAM47E-STBD1, STBD1 (D196Y)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2492716	NM_003943.5(STBD1):c.356A>G (p.Gln119Arg)	FAM47E-STBD1, STBD1 (Q119R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2489404	NM_003943.5(STBD1):c.4G>A (p.Gly2Ser)	FAM47E-STBD1, STBD1 (G2S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479993	NM_003943.5(STBD1):c.290C>T (p.Ser97Leu)	FAM47E-STBD1, STBD1 (S97L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2402992	NM_003943.5(STBD1):c.590G>A (p.Arg197Gln)	FAM47E-STBD1, STBD1 (R197Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2376959	NM_003943.5(STBD1):c.532C>G (p.Leu178Val)	FAM47E-STBD1, STBD1 (L178V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2366218	NM_003943.5(STBD1):c.1063T>C (p.Trp355Arg)	FAM47E-STBD1, STBD1 (W355R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2326662	NM_003943.5(STBD1):c.1060T>C (p.Trp354Arg)	FAM47E-STBD1, STBD1 (W354R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2309425	NM_003943.5(STBD1):c.880A>G (p.Asn294Asp)	FAM47E-STBD1, STBD1 (N294D)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2303974	NM_003943.5(STBD1):c.538A>C (p.Lys180Gln)	FAM47E-STBD1, STBD1 (K180Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2290588	NM_003943.5(STBD1):c.1025T>C (p.Leu342Pro)	STBD1, FAM47E-STBD1 (L342P)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2283618	NM_003943.5(STBD1):c.365A>G (p.Asp122Gly)	FAM47E-STBD1, STBD1 (D122G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2276211	NM_003943.5(STBD1):c.154G>T (p.Gly52Cys)	FAM47E-STBD1, STBD1 (G52C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271720	NM_003943.5(STBD1):c.790G>C (p.Val264Leu)	FAM47E-STBD1, STBD1 (V264L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2263755	NM_003943.5(STBD1):c.341A>G (p.His114Arg)	FAM47E-STBD1, STBD1 (H114R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2263539	NM_003943.5(STBD1):c.239A>G (p.Asn80Ser)	FAM47E-STBD1, STBD1 (M349V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258774	NM_003943.5(STBD1):c.15G>C (p.Trp5Cys)	FAM47E-STBD1, STBD1 (W5C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234014	NM_003943.5(STBD1):c.335G>A (p.Arg112Lys)	FAM47E-STBD1, STBD1 (R112K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2220665	NM_003943.5(STBD1):c.1057G>A (p.Ala353Thr)	FAM47E-STBD1, STBD1 (A353T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2212426	NM_003943.5(STBD1):c.763G>A (p.Ala255Thr)	FAM47E-STBD1, STBD1 (A255T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2208329	NM_003943.5(STBD1):c.71G>C (p.Arg24Pro)	FAM47E-STBD1, STBD1 (R24P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1684642	NC_000004.12:g.67833055_82716065del	LINC01088, LINC01094 +330 more	Deletion	See cases	GPathogenic
Select item 1527097	GRCh37/hg19 4q13.3-22.1(chr4:75737340-91131156)	ABCG2, ABRAXAS1 +91 more	Copy number gain	not specified	GPathogenic
Select item 1527095	GRCh37/hg19 4q13.3-21.21(chr4:73055313-80083154)	CXCL5, CXCL6 +51 more	Copy number loss	not specified	GPathogenic
Select item 1456083	NC_000004.11:g.(?_76481293)_(77700330_?)del	ART3, CCDC158 +16 more	Deletion	Progressive myoclonic epilepsy	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 983172	GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1	ABRAXAS1, ADAMTS3 +97 more	Copy number loss	See cases	GPathogenic
Select item 980096	GRCh37/hg19 4q21.1(chr4:76998519-77433888)x3	STBD1, NUP54 +6 more	Copy number gain	not provided	GUncertain significance
Select item 814566	GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1	CXCL3, LIN54 +82 more	Copy number loss	not provided	GPathogenic
Select item 814563	GRCh37/hg19 4q13.2-21.21(chr4:68950363-79738598)x1	ADAMTS3, AFM +92 more	Copy number loss	not provided	GPathogenic
Select item 685523	GRCh37/hg19 4q13.3-21.1(chr4:71561780-78304341)x1	ADAMTS3, AFM +51 more	Copy number loss	not provided	GPathogenic
Select item 685236	GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3	CCNG2, CCNI +109 more	Copy number gain	not provided	GPathogenic
Select item 562932	GRCh37/hg19 4q13.3-21.1(chr4:74890695-77318961)x1	CDKL2, AREG +25 more	Copy number loss	not provided	GUncertain significance
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 152987	GRCh38/hg38 4q21.1-21.21(chr4:75801143-79005805)x3	ANXA3, ART3 +107 more	Copy number gain	See cases	GPathogenic
Select item 149262	GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	ABRAXAS1, ADAMTS3 +331 more	Copy number gain	See cases	GPathogenic
Select item 58031	GRCh38/hg38 4q13.3-21.21(chr4:71128874-78099088)x3	ADAMTS3, AFM +166 more	Copy number gain	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 57143	GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1	LOC129992714, LOC129992715 +236 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 53