Related gene-specific medical variations for Gene (Select 100506469) - ClinVar

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Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3280696	NM_014364.5(GAPDHS):c.665C>T (p.Ala222Val)	GAPDHS, TMEM147-AS1 (A222V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3178851	NM_032635.4(TMEM147):c.92C>T (p.Ala31Val)	TMEM147, TMEM147-AS1 (A31V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3178849	NM_032635.4(TMEM147):c.34C>T (p.Leu12Phe)	TMEM147, TMEM147-AS1 (L12F)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3098320	NM_014364.5(GAPDHS):c.943G>A (p.Val315Met)	GAPDHS, TMEM147-AS1 (V315M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098318	NM_014364.5(GAPDHS):c.856G>T (p.Ala286Ser)	GAPDHS, TMEM147-AS1 (A286S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098317	NM_014364.5(GAPDHS):c.806G>A (p.Arg269Gln)	GAPDHS, TMEM147-AS1 (R269Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098314	NM_014364.5(GAPDHS):c.1209G>A (p.Met403Ile)	GAPDHS, TMEM147-AS1 (M403I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098313	NM_014364.5(GAPDHS):c.1208T>A (p.Met403Lys)	GAPDHS, TMEM147-AS1 (M403K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098312	NM_014364.5(GAPDHS):c.1139T>G (p.Val380Gly)	GAPDHS, TMEM147-AS1 (V380G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098311	NM_014364.5(GAPDHS):c.1136T>C (p.Phe379Ser)	GAPDHS, TMEM147-AS1 (F379S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2826176	NM_032635.4(TMEM147):c.14A>C (p.His5Pro)	TMEM147, TMEM147-AS1 (H5P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2578539	NM_032635.4(TMEM147):c.137A>C (p.Gln46Pro)	TMEM147, TMEM147-AS1 (Q46P)	Single nucleotide variant (non-coding transcript variant +2 more)	Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly	GUncertain significance
Select item 2578538	NM_032635.4(TMEM147):c.31G>C (p.Ala11Pro)	TMEM147, TMEM147-AS1 (A11P)	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly	GUncertain significance
Select item 2571039	NM_032635.4(TMEM147):c.7C>T (p.Leu3=)	TMEM147, TMEM147-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2571038	NM_032635.4(TMEM147):c.6C>T (p.Thr2=)	TMEM147, TMEM147-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2538325	NM_014364.5(GAPDHS):c.982T>A (p.Ser328Thr)	GAPDHS, TMEM147-AS1 (S328T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379983	NM_014364.5(GAPDHS):c.496G>A (p.Val166Met)	GAPDHS, TMEM147-AS1 (V166M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378668	NM_014364.5(GAPDHS):c.761C>T (p.Thr254Met)	GAPDHS, TMEM147-AS1 (T254M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361946	NM_014364.5(GAPDHS):c.580G>A (p.Ala194Thr)	GAPDHS, TMEM147-AS1 (A194T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359175	NM_014364.5(GAPDHS):c.941T>C (p.Val314Ala)	GAPDHS, TMEM147-AS1 (V314A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336168	NM_014364.5(GAPDHS):c.964G>A (p.Ala322Thr)	GAPDHS, TMEM147-AS1 (A322T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334209	NM_014364.5(GAPDHS):c.800C>T (p.Ala267Val)	GAPDHS, TMEM147-AS1 (A267V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305259	NM_014364.5(GAPDHS):c.506C>G (p.Ser169Cys)	GAPDHS, TMEM147-AS1 (S169C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250691	NM_014364.5(GAPDHS):c.1035C>G (p.Ile345Met)	GAPDHS, TMEM147-AS1 (I345M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235978	NM_014364.5(GAPDHS):c.784G>A (p.Gly262Arg)	GAPDHS, TMEM147-AS1 (G262R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213257	NM_014364.5(GAPDHS):c.484G>A (p.Gly162Arg)	GAPDHS, TMEM147-AS1 (G162R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711115	NM_032635.4(TMEM147):c.19G>C (p.Gly7Arg)	TMEM147, TMEM147-AS1 (G7R)	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly +2 more	GConflicting classifications of pathogenicity
Select item 1708021	NM_032635.4(TMEM147):c.63C>G (p.Tyr21Ter)	TMEM147, TMEM147-AS1 (Y21*)	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly	GPathogenic
Select item 1708019	NM_032635.4(TMEM147):c.100_118del (p.Lys34fs)	TMEM147, TMEM147-AS1 (K34fs)	Deletion (5 prime UTR variant +1 more)	Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly	GPathogenic
Select item 713730	NM_014364.5(GAPDHS):c.858G>A (p.Ala286=)	GAPDHS, TMEM147-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 713729	NM_014364.5(GAPDHS):c.601A>G (p.Met201Val)	GAPDHS, TMEM147-AS1 (M201V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 161676	NM_014364.5(GAPDHS):c.1129G>A (p.Asp377Asn)	TMEM147-AS1, GAPDHS (D377N)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance

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Links from Gene

Items: 32