TMEM229A[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 60286	GRCh38/hg38 7q31.1-31.33(chr7:113799835-124899218)x1	AASS, ANKRD7 +248 more	Copy number loss	See cases	GPathogenic
Select item 145985	GRCh38/hg38 7q31.1-31.33(chr7:114142477-125840381)x1	AASS, ANKRD7 +253 more	Copy number loss	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	LOC129999373, LOC129999374 +492 more	Copy number loss	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 154454	GRCh38/hg38 7q31.32-32.1(chr7:122018122-128907727)x1	AASS, ARF5 +163 more	Copy number loss	See cases	GPathogenic
Select item 155415	GRCh38/hg38 7q31.32-31.33(chr7:123303689-124171626)x3	ASB15, ASB15-AS1 +20 more	Copy number gain	See cases	GUncertain significance
Select item 155209	GRCh38/hg38 7q31.32-31.33(chr7:123303689-124164709)x3	ASB15, ASB15-AS1 +20 more	Copy number gain	See cases	GUncertain significance
Select item 144923	GRCh38/hg38 7q31.32-31.33(chr7:123319393-124170657)x3	ASB15, ASB15-AS1 +20 more	Copy number gain	See cases	GUncertain significance
Select item 148342	GRCh38/hg38 7q31.32-32.1(chr7:123829366-127947731)x1	ARF5, FSCN3 +60 more	Copy number loss	See cases	GLikely pathogenic
Select item 2619311	NM_001136002.2(TMEM229A):c.1132C>G (p.Pro378Ala)	TMEM229A (P378A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179194	NM_001136002.2(TMEM229A):c.1108G>A (p.Val370Met)	TMEM229A (V370M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179193	NM_001136002.2(TMEM229A):c.1096C>G (p.Leu366Val)	TMEM229A (L366V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326983	NM_001136002.2(TMEM229A):c.1036A>G (p.Met346Val)	TMEM229A (M346V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179201	NM_001136002.2(TMEM229A):c.964C>G (p.Leu322Val)	TMEM229A (L322V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179200	NM_001136002.2(TMEM229A):c.913G>A (p.Gly305Ser)	TMEM229A (G305S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179199	NM_001136002.2(TMEM229A):c.892C>T (p.Leu298Phe)	TMEM229A (L298F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467440	NM_001136002.2(TMEM229A):c.847A>G (p.Met283Val)	TMEM229A (M283V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326981	NM_001136002.2(TMEM229A):c.790G>T (p.Val264Leu)	TMEM229A (V264L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2330989	NM_001136002.2(TMEM229A):c.736T>C (p.Phe246Leu)	TMEM229A (F246L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326978	NM_001136002.2(TMEM229A):c.676G>A (p.Gly226Ser)	TMEM229A (G226S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179198	NM_001136002.2(TMEM229A):c.662G>T (p.Arg221Leu)	TMEM229A (R221L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331568	NM_001136002.2(TMEM229A):c.629G>A (p.Gly210Asp)	TMEM229A (G210D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287562	NM_001136002.2(TMEM229A):c.578A>C (p.Gln193Pro)	TMEM229A (Q193P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238071	NM_001136002.2(TMEM229A):c.576G>C (p.Gln192His)	TMEM229A (Q192H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482655	NM_001136002.2(TMEM229A):c.547G>A (p.Gly183Arg)	TMEM229A (G183R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326980	NM_001136002.2(TMEM229A):c.529T>G (p.Phe177Val)	TMEM229A (F177V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326984	NM_001136002.2(TMEM229A):c.439G>C (p.Gly147Arg)	TMEM229A (G147R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231563	NM_001136002.2(TMEM229A):c.392G>C (p.Gly131Ala)	TMEM229A (G131A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326982	NM_001136002.2(TMEM229A):c.367C>T (p.Leu123Phe)	TMEM229A (L123F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179197	NM_001136002.2(TMEM229A):c.361A>G (p.Asn121Asp)	TMEM229A (N121D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179196	NM_001136002.2(TMEM229A):c.352T>G (p.Phe118Val)	TMEM229A (F118V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179195	NM_001136002.2(TMEM229A):c.205G>A (p.Val69Met)	TMEM229A (V69M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326985	NM_001136002.2(TMEM229A):c.190G>C (p.Gly64Arg)	TMEM229A (G64R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213312	NM_001136002.2(TMEM229A):c.144C>G (p.Ser48Arg)	TMEM229A (S48R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326979	NM_001136002.2(TMEM229A):c.113C>G (p.Pro38Arg)	TMEM229A (P38R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491516	NM_001136002.2(TMEM229A):c.100G>A (p.Gly34Ser)	TMEM229A (G34S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249641	NM_001136002.2(TMEM229A):c.22A>C (p.Ser8Arg)	TMEM229A (S8R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062992	GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1	AASS, AGBL3 +100 more	Copy number loss	not specified	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1687716	Single allele	FEZF1, GPR37 +38 more	Deletion	Delayed speech and language development	GLikely pathogenic
Select item 1527383	GRCh37/hg19 7q22.3-32.1(chr7:106984287-128949489)	PRRT4, PTPRZ1 +92 more	Copy number gain	not specified	GPathogenic
Select item 1047873	GRCh37/hg19 7q31.2-31.33(chr7:116297277-126370694)	AASS, ANKRD7 +35 more	Copy number loss	Global developmental delay +2 more	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 687212	GRCh37/hg19 7q31.32-32.2(chr7:121480906-129389003)x1	AASS, AHCYL2 +46 more	Copy number loss	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563379	GRCh37/hg19 7q31.32-31.33(chr7:122943743-123804763)x3	LMOD2, IQUB +6 more	Copy number gain	not provided	GLikely benign
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 253455	GRCh37/hg19 7q31.1-32.1(chr7:111613396-127897316)x1	AASS, RNU2-1 +57 more	Copy number loss	See cases	GPathogenic

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Items: 55