"GeneDx"[submitter] AND "LOC130003554"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58719	GRCh38/hg38 10p12.1-11.23(chr10:27046685-30228891)x1	ACBD5, ANKRD26 +90 more	Copy number loss	See cases	GPathogenic
Select item 210181	NM_014915.3(ANKRD26):c.153C>G (p.His51Gln)	ANKRD26, LOC130003554 (H51Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2574353	NM_014915.3(ANKRD26):c.142G>A (p.Gly48Ser)	ANKRD26, LOC130003554 (G48S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503379	NM_014915.3(ANKRD26):c.136G>A (p.Asp46Asn)	ANKRD26, LOC130003554 (D46N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1311901	NM_014915.3(ANKRD26):c.121C>T (p.His41Tyr)	ANKRD26, LOC130003554 (H41Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 450395	NM_014915.3(ANKRD26):c.112C>T (p.Pro38Ser)	ANKRD26, LOC130003554 (P38S)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1337772	NM_014915.3(ANKRD26):c.110A>G (p.Gln37Arg)	ANKRD26, LOC130003554 (Q37R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1312613	NM_014915.3(ANKRD26):c.105C>G (p.Tyr35Ter)	ANKRD26, LOC130003554 (Y35*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2578185	NM_014915.3(ANKRD26):c.104A>T (p.Tyr35Phe)	ANKRD26, LOC130003554 (Y35F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1049678	NM_014915.3(ANKRD26):c.98G>T (p.Gly33Val)	ANKRD26, LOC130003554 (G33V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2167419	NM_014915.3(ANKRD26):c.96G>C (p.Glu32Asp)	ANKRD26, LOC130003554 (E32D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367472	NM_014915.3(ANKRD26):c.79G>A (p.Gly27Arg)	ANKRD26, LOC130003554 (G27R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429700	NM_014915.3(ANKRD26):c.66C>A (p.Ser22Arg)	ANKRD26, LOC130003554 (S22R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 260472	NM_014915.3(ANKRD26):c.59A>G (p.Gln20Arg)	ANKRD26, LOC130003554 (Q20R)	Single nucleotide variant (missense variant)	Thrombocytopenia 2 +2 more	GBenign
Select item 2499322	NM_014915.3(ANKRD26):c.56G>T (p.Arg19Leu)	ANKRD26, LOC130003554 (R19L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 712488	NM_014915.3(ANKRD26):c.40G>A (p.Gly14Ser)	ANKRD26, LOC130003554 (G14S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2429548	NM_014915.3(ANKRD26):c.31T>A (p.Ser11Thr)	ANKRD26, LOC130003554 (S11T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304129	NM_014915.3(ANKRD26):c.26G>A (p.Gly9Asp)	ANKRD26, LOC130003554 (G9D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367267	NM_014915.3(ANKRD26):c.21G>T (p.Lys7Asn)	ANKRD26, LOC130003554 (K7N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371860	NM_014915.3(ANKRD26):c.17G>A (p.Ser6Asn)	ANKRD26, LOC130003554 (S6N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 878948	NM_014915.3(ANKRD26):c.3G>A (p.Met1Ile)	ANKRD26, LOC130003554 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2578065	NM_014915.3(ANKRD26):c.-2C>G	ANKRD26, LOC130003554	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance

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Items: 22