TMEM247[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 153532	GRCh38/hg38 2p21-16.3(chr2:46415109-48203207)x3	LOC129933708, LOC129933709 +104 more	Copy number gain	See cases	GUncertain significance
Select item 3179278	NM_001424184.1(TMEM247):c.4G>T (p.Ala2Ser)	TMEM247 (A2S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179276	NM_001424184.1(TMEM247):c.35G>A (p.Arg12Gln)	TMEM247 (R12Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179277	NM_001424184.1(TMEM247):c.46G>A (p.Glu16Lys)	TMEM247 (E16K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223002	NM_001424184.1(TMEM247):c.72G>T (p.Met24Ile)	TMEM247 (M24I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179272	NM_001424184.1(TMEM247):c.169G>C (p.Glu57Gln)	TMEM247 (E57Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231262	NM_001424184.1(TMEM247):c.190T>C (p.Cys64Arg)	TMEM247 (C64R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368552	NM_001424184.1(TMEM247):c.200C>T (p.Pro67Leu)	TMEM247 (P67L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255796	NM_001424184.1(TMEM247):c.230G>A (p.Arg77His)	TMEM247 (R77H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179273	NM_001424184.1(TMEM247):c.266C>T (p.Pro89Leu)	TMEM247 (P89L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2319842	NM_001424184.1(TMEM247):c.275T>C (p.Leu92Pro)	TMEM247 (L92P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179275	NM_001424184.1(TMEM247):c.312G>A (p.Met104Ile)	TMEM247 (M104I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599435	NM_001424184.1(TMEM247):c.326T>A (p.Val109Glu)	TMEM247 (V109E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523729	NM_001424184.1(TMEM247):c.328C>T (p.Arg110Cys)	TMEM247 (R110C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616438	NM_001424184.1(TMEM247):c.335A>C (p.Glu112Ala)	TMEM247 (E112A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542639	NM_001424184.1(TMEM247):c.340G>A (p.Glu114Lys)	TMEM247 (E114K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650874	NM_001424184.1(TMEM247):c.401T>C (p.Val134Ala)	TMEM247 (V134A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2369868	NM_001424184.1(TMEM247):c.472C>T (p.Arg158Cys)	TMEM247 (R158C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425909	NC_000002.11:g.(?_46525051)_(46851366_?)dup	ATP6V1E2, CRIPT +4 more	Duplication	not provided	GUncertain significance
Select item 2422665	NC_000002.11:g.(?_38121051)_(47710088_?)dup	CAMKMT, CDKL4 +52 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526541	GRCh37/hg19 2p21(chr2:45899044-46739157)	ATP6V1E2, EPAS1 +2 more	Copy number gain	not specified	GUncertain significance
Select item 814243	GRCh37/hg19 2p21(chr2:46179259-47646894)x3	TTC7A, ATP6V1E2 +13 more	Copy number gain	not provided	GUncertain significance
Select item 562680	GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3	ABCG5, ABCG8 +100 more	Copy number gain	not provided	GPathogenic
Select item 562630	GRCh37/hg19 2p21(chr2:46557702-47744377)x3	CALM2, ATP6V1E2 +12 more	Copy number gain	not provided	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 429039	NC_000002.11:g.38121110_47669522inv	ATP6V1E2, GEMIN6 +52 more	Inversion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 402127	GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	ABCG5, ABCG8 +139 more	Copy number gain	See cases	GPathogenic

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Items: 34