Related gene-specific medical variations for Gene (Select 155006) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2526024	NM_001085429.2(TMEM213):c.65A>G (p.His22Arg)	ATP6V0A4, LOC123956241 +1 more (H22R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2389859	NM_001085429.2(TMEM213):c.68C>T (p.Ser23Leu)	ATP6V0A4, TMEM213 +1 more (S23L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 909589	NM_001085429.2(TMEM213):c.82+8T>C	ATP6V0A4, LOC123956241 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive distal renal tubular acidosis	GUncertain significance
Select item 909588	NM_001085429.2(TMEM213):c.8G>A (p.Arg3His)	ATP6V0A4, LOC123956241 +1 more (R3H)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive distal renal tubular acidosis	GBenign
Select item 908732	NM_001085429.2(TMEM213):c.-57C>T	LOC123956241, TMEM213 +1 more	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive distal renal tubular acidosis	GUncertain significance
Select item 359040	NM_001085429.2(TMEM213):c.57C>T (p.Ala19=)	ATP6V0A4, LOC123956241 +1 more	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive distal renal tubular acidosis	GUncertain significance
Select item 359039	NM_001085429.2(TMEM213):c.49G>C (p.Ala17Pro)	ATP6V0A4, LOC123956241 +1 more (A17P)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive distal renal tubular acidosis	GUncertain significance
Select item 359038	NM_001085429.2(TMEM213):c.15C>T (p.Pro5=)	ATP6V0A4, LOC123956241 +1 more	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive distal renal tubular acidosis	GUncertain significance
Select item 359037	NM_001085429.2(TMEM213):c.-23G>A	ATP6V0A4, LOC123956241 +1 more	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive distal renal tubular acidosis	GBenign
Select item 359036	NM_001085429.2(TMEM213):c.-55G>A	ATP6V0A4, LOC123956241 +1 more	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive distal renal tubular acidosis	GBenign
Select item 359035	NM_001085429.2(TMEM213):c.-56G>A	ATP6V0A4, LOC123956241 +1 more	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive distal renal tubular acidosis	GUncertain significance