ANKRD36[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2651159	NM_001354587.1(ANKRD36):c.684G>A (p.Ala228=)	ANKRD36	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651160	NM_001354587.1(ANKRD36):c.1212C>T (p.Asp404=)	ANKRD36	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651161	NM_001354587.1(ANKRD36):c.1335T>C (p.Cys445=)	ANKRD36	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651162	NM_001354587.1(ANKRD36):c.1674C>T (p.Asp558=)	ANKRD36	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651163	NM_001354587.1(ANKRD36):c.2173-3A>C	ANKRD36	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 917512	NM_001354587.1(ANKRD36):c.2479-1G>A	ANKRD36	Single nucleotide variant (splice acceptor variant)	Hearing loss, autosomal recessive	GLikely pathogenic
Select item 917513	NM_001354587.1(ANKRD36):c.2589T>G (p.Ser863Arg)	ANKRD36 (S863R)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive	GLikely pathogenic
Select item 2651164	NM_001354587.1(ANKRD36):c.3567A>G (p.Gly1189=)	ANKRD36	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2858945	NM_001354587.1(ANKRD36):c.3878-3dup	ANKRD36	Duplication (intron variant)	not provided	GBenign
Select item 2651165	NM_001354587.1(ANKRD36):c.4443C>T (p.Leu1481=)	ANKRD36	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651166	NM_001354587.1(ANKRD36):c.4707T>C (p.Tyr1569=)	ANKRD36	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651167	NM_001354587.1(ANKRD36):c.5730G>C (p.Leu1910=)	ANKRD36	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1320036	NM_001354587.1(ANKRD36):c.5731dup (p.Gln1911fs)	ANKRD36 (Q1911fs)	Duplication (frameshift variant)	Acromesomelic dysplasia 2B +1 more	GBenign