ClinVar for Gene (Select 8987) - ClinVar

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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	AADAT, AASDH +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)	FAM47E-STBD1, 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	BTC, CABS1 +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

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Links from Gene

Items: 53