"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "ANKRD30B"[ - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2648607	NM_001367607.2(ANKRD30B):c.258A>G (p.Ala86=)	ANKRD30B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2648608	NM_001367607.2(ANKRD30B):c.1918T>C (p.Phe640Leu)	ANKRD30B (F640L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2648609	NM_001367607.2(ANKRD30B):c.2841T>C (p.Thr947=)	ANKRD30B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648610	NM_001367607.2(ANKRD30B):c.3810G>A (p.Leu1270=)	ANKRD30B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1701345	GRCh37/hg19 18p11.32-11.21(chr18:47390-14854037)x3	ADCYAP1, AFG3L2 +65 more	Copy number gain	not provided	GPathogenic

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