FAM47E[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 1684642	NC_000004.12:g.67833055_82716065del	BTC, CABS1 +330 more	Deletion	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 58031	GRCh38/hg38 4q13.3-21.21(chr4:71128874-78099088)x3	ADAMTS3, AFM +166 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 57143	GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1	LOC129992714, LOC129992715 +236 more	Copy number loss	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 2473668	NM_001136570.3(FAM47E):c.26G>A (p.Arg9Gln)	FAM47E, FAM47E-STBD1 (R9Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3092466	NM_001136570.3(FAM47E):c.52G>C (p.Glu18Gln)	FAM47E, FAM47E-STBD1 (E18Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551655	NM_001136570.3(FAM47E):c.89A>T (p.His30Leu)	FAM47E, FAM47E-STBD1 (H30L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476170	NM_001136570.3(FAM47E):c.151G>A (p.Gly51Arg)	FAM47E, FAM47E-STBD1 (G51R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2288558	NM_001136570.3(FAM47E):c.157G>C (p.Asp53His)	FAM47E, FAM47E-STBD1 (D53H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369583	NM_001136570.3(FAM47E):c.252A>C (p.Gln84His)	FAM47E, FAM47E-STBD1 (Q84H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623974	NM_001136570.3(FAM47E):c.314C>T (p.Ser105Leu)	FAM47E, FAM47E-STBD1 (S105L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331793	NM_001136570.3(FAM47E):c.382G>A (p.Ala128Thr)	FAM47E, FAM47E-STBD1 (A128T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509821	NM_001136570.3(FAM47E):c.415A>G (p.Ile139Val)	FAM47E, FAM47E-STBD1 (I139V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2495017	NM_001136570.3(FAM47E):c.477G>T (p.Trp159Cys)	FAM47E, FAM47E-STBD1 (W159C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545887	NM_001136570.3(FAM47E):c.518C>T (p.Thr173Met)	FAM47E, FAM47E-STBD1 (T60M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327435	NM_001136570.3(FAM47E):c.575C>T (p.Ser192Phe)	FAM47E, FAM47E-STBD1 (S79F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390560	NM_001136570.3(FAM47E):c.616C>T (p.His206Tyr)	FAM47E, FAM47E-STBD1 (H206Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211861	NM_001136570.3(FAM47E):c.638A>G (p.Glu213Gly)	FAM47E, FAM47E-STBD1 (E100G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258911	NM_001136570.3(FAM47E):c.652C>T (p.Pro218Ser)	FAM47E, FAM47E-STBD1 (P105S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492043	NM_001136570.3(FAM47E):c.704A>G (p.Lys235Arg)	FAM47E, FAM47E-STBD1 (K235R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385925	NM_001136570.3(FAM47E):c.721T>C (p.Tyr241His)	FAM47E, FAM47E-STBD1 (Y241H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277454	NM_001136570.3(FAM47E):c.733C>G (p.Pro245Ala)	FAM47E, FAM47E-STBD1 (P147A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092468	NM_001136570.3(FAM47E):c.739C>A (p.His247Asn)	FAM47E, FAM47E-STBD1 (H247N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249058	NM_001136570.3(FAM47E):c.755C>T (p.Thr252Met)	FAM47E, FAM47E-STBD1 (T252M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3092469	NM_001136570.3(FAM47E):c.785T>C (p.Leu262Pro)	FAM47E, FAM47E-STBD1 (L164P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277455	NM_001136570.3(FAM47E):c.794G>A (p.Ser265Asn)	FAM47E, FAM47E-STBD1 (S167N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092470	NM_001136570.3(FAM47E):c.821C>T (p.Thr274Ile)	FAM47E, FAM47E-STBD1 (T176I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410047	NM_001136570.3(FAM47E):c.866C>T (p.Pro289Leu)	FAM47E, FAM47E-STBD1 (P289L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277453	NM_001136570.3(FAM47E):c.872A>G (p.Asn291Ser)	FAM47E, FAM47E-STBD1 (N193S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614352	NM_001136570.3(FAM47E):c.903G>T (p.Arg301Ser)	FAM47E, FAM47E-STBD1 (R301S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622351	NM_001136570.3(FAM47E):c.911C>T (p.Ala304Val)	FAM47E, FAM47E-STBD1 (A304V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234229	NM_001136570.3(FAM47E):c.970C>T (p.Pro324Ser)	FAM47E, FAM47E-STBD1 (P324S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277452	NM_001136570.3(FAM47E):c.976G>A (p.Val326Ile)	FAM47E, FAM47E-STBD1 (V228I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092463	NM_001136570.3(FAM47E):c.1050C>A (p.His350Gln)	FAM47E, FAM47E-STBD1 (H252Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385836	NM_001136570.3(FAM47E):c.1051G>A (p.Gly351Arg)	FAM47E, FAM47E-STBD1 (G253R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092464	NM_001136570.3(FAM47E):c.1169G>A (p.Arg390Gln)	FAM47E, FAM47E-STBD1 (R292Q +1 more)	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 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 562933	GRCh37/hg19 4q13.3-21.1(chr4:75353931-77183033)x1	BTC, PARM1 +17 more	Copy number loss	not provided	GUncertain significance
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

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Items: 56