TMEM244[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	ARHGAP18, ASF1A +316 more	Copy number loss	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 154738	GRCh38/hg38 6q22.32-23.2(chr6:126494533-132497855)x1	AKAP7, ARG1 +127 more	Copy number loss	See cases	GLikely pathogenic
Select item 154269	GRCh38/hg38 6q22.33-23.2(chr6:129191313-132131620)x1	AKAP7, ARG1 +87 more	Copy number loss	See cases	GLikely pathogenic
Select item 2252897	NM_001010876.2(TMEM244):c.371C>T (p.Ser124Leu)	TMEM244 (S124L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268931	NM_001010876.2(TMEM244):c.364G>A (p.Gly122Ser)	TMEM244 (G122S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464432	NM_001010876.2(TMEM244):c.324G>A (p.Met108Ile)	TMEM244 (M108I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354961	NM_001010876.2(TMEM244):c.250G>T (p.Val84Phe)	TMEM244 (V84F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215712	NM_001010876.2(TMEM244):c.218C>T (p.Thr73Ile)	TMEM244 (T73I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1049083	NM_001010876.2(TMEM244):c.194-1G>T	TMEM244	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2216426	NM_001010876.2(TMEM244):c.112A>T (p.Met38Leu)	TMEM244 (M38L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2350790	NM_001010876.2(TMEM244):c.109G>A (p.Val37Met)	TMEM244 (V37M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2393089	NM_001010876.2(TMEM244):c.103G>C (p.Gly35Arg)	TMEM244 (G35R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619214	NM_001010876.2(TMEM244):c.100A>G (p.Met34Val)	TMEM244 (M34V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179260	NM_001010876.2(TMEM244):c.80T>G (p.Val27Gly)	TMEM244 (V27G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242313	GRCh37/hg19 6q22.33-23.2(chr6:129969121-132499298)x1	AKAP7, ARG1 +13 more	Copy number loss	not provided	GUncertain significance
Select item 3062929	GRCh37/hg19 6q22.31-22.33(chr6:124515654-130227224)x1	ARHGAP18, C6orf58 +19 more	Copy number loss	not specified	GUncertain significance
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 3062896	GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	AKAP7, AMD1 +87 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685213	GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1	AHI1, AKAP7 +69 more	Copy number loss	not provided	GPathogenic
Select item 1712295	Single allele	ARHGAP18, LAMA2 +1 more	Complex	Muscular dystrophy, limb-girdle, autosomal recessive 23	GPathogenic
Select item 1527288	GRCh37/hg19 6q22.33-23.1(chr6:129779876-130603406)	ARHGAP18, L3MBTL3 +3 more	Copy number gain	not specified	GUncertain significance
Select item 625707	GRCh37/hg19 6q22.33-23.2(chr6:129513837-132618991)	ARG1, AKAP7 +15 more	Copy number loss	not provided	GLikely pathogenic
Select item 523159	GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1	EPB41L2, FABP7 +73 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442817	GRCh37/hg19 6q22.31-23.2(chr6:122612641-131564463)x1	AKAP7, ARHGAP18 +32 more	Copy number loss	See cases	GPathogenic

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Items: 29