"Illumina Laboratory Services, Illumina"[submitter] AND "LOC130009117" - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 307571	NM_012463.3(ATP6V0A2):c.-243C>A	ATP6V0A2, LOC130009117	Single nucleotide variant	Cutis laxa, recessive	GUncertain significance
Select item 307572	NM_012463.3(ATP6V0A2):c.-227A>G	ATP6V0A2, LOC130009117	Single nucleotide variant	Cutis laxa, recessive +1 more	GLikely benign
Select item 307573	NM_012463.3(ATP6V0A2):c.-222C>G	ATP6V0A2, LOC130009117 +1 more	Single nucleotide variant	Cutis laxa, recessive +3 more	GBenign/Likely benign
Select item 307574	NM_012463.4(ATP6V0A2):c.-170C>A	ATP6V0A2, LOC130009117	Single nucleotide variant (5 prime UTR variant)	Cutis laxa, recessive +1 more	GUncertain significance
Select item 307575	NM_012463.4(ATP6V0A2):c.-148C>T	ATP6V0A2, LOC130009117	Single nucleotide variant (5 prime UTR variant)	Cutis laxa with osteodystrophy	GUncertain significance
Select item 307576	NM_012463.4(ATP6V0A2):c.-117C>T	ATP6V0A2, LOC130009117	Single nucleotide variant (5 prime UTR variant)	Cutis laxa with osteodystrophy	GLikely benign
Select item 881884	NM_012463.4(ATP6V0A2):c.-114G>A	ATP6V0A2, LOC130009117	Single nucleotide variant (5 prime UTR variant)	Cutis laxa with osteodystrophy	GUncertain significance
Select item 95515	NM_012463.4(ATP6V0A2):c.-14C>T	ATP6V0A2, LOC130009117 +1 more	Single nucleotide variant (5 prime UTR variant)	Cutis laxa, recessive +4 more	GBenign/Likely benign
Select item 425021	NM_012463.4(ATP6V0A2):c.26C>T (p.Thr9Ile)	ATP6V0A2, LOC130009117 (T9I)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 881885	NM_012463.4(ATP6V0A2):c.89G>A (p.Gly30Asp)	ATP6V0A2, LOC130009117 (G30D)	Single nucleotide variant (missense variant)	Cutis laxa with osteodystrophy	GUncertain significance
Select item 385242	NM_012463.4(ATP6V0A2):c.117+14G>A	ATP6V0A2, LOC130009117	Single nucleotide variant (intron variant)	not provided +2 more	GBenign