"Ambry Genetics"[submitter] AND "CCDC112"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2569173	NM_001040440.3(CCDC112):c.1535A>G (p.His512Arg)	CCDC112 (H397R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138263	NM_001040440.3(CCDC112):c.1520C>G (p.Ser507Cys)	CCDC112 (S475C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375495	NM_001040440.3(CCDC112):c.1363G>A (p.Asp455Asn)	CCDC112 (D372N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606026	NM_001040440.3(CCDC112):c.1360C>A (p.Leu454Ile)	CCDC112 (L371I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235761	NM_001040440.3(CCDC112):c.1339C>A (p.His447Asn)	CCDC112 (H447N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257445	NM_001040440.3(CCDC112):c.1311A>T (p.Glu437Asp)	CCDC112 (E354D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138262	NM_001040440.3(CCDC112):c.1178G>T (p.Arg393Leu)	CCDC112 (R393L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138261	NM_001040440.3(CCDC112):c.1172G>A (p.Arg391His)	CCDC112 (R391H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464567	NM_001040440.3(CCDC112):c.1111A>G (p.Met371Val)	CCDC112 (M288V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223254	NM_001040440.3(CCDC112):c.1108T>C (p.Ser370Pro)	CCDC112 (S370P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556851	NM_001040440.3(CCDC112):c.1013A>G (p.Asn338Ser)	CCDC112 (N255S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234036	NM_001040440.3(CCDC112):c.1000G>A (p.Val334Met)	CCDC112 (V251M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2489950	NM_001040440.3(CCDC112):c.956G>A (p.Arg319Lys)	CCDC112 (R236K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2468417	NM_001040440.3(CCDC112):c.895G>T (p.Ala299Ser)	CCDC112 (A216S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466339	NM_001040440.3(CCDC112):c.771C>G (p.Asn257Lys)	CCDC112 (N257K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341528	NM_001040440.3(CCDC112):c.752A>T (p.Asp251Val)	CCDC112 (D168V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288967	NM_001040440.3(CCDC112):c.727A>T (p.Thr243Ser)	CCDC112 (T160S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138268	NM_001040440.3(CCDC112):c.698T>A (p.Val233Glu)	CCDC112 (V150E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327080	NM_001040440.3(CCDC112):c.682A>T (p.Thr228Ser)	CCDC112 (T145S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277843	NM_001040440.3(CCDC112):c.661G>A (p.Val221Ile)	CCDC112 (V221I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138267	NM_001040440.3(CCDC112):c.659C>G (p.Pro220Arg)	CCDC112 (P220R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138266	NM_001040440.3(CCDC112):c.627G>T (p.Glu209Asp)	CCDC112 (E126D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405400	NM_001040440.3(CCDC112):c.568G>C (p.Glu190Gln)	CCDC112 (E107Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138265	NM_001040440.3(CCDC112):c.513A>C (p.Glu171Asp)	CCDC112 (E88D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138264	NM_001040440.3(CCDC112):c.458A>C (p.Glu153Ala)	CCDC112 (E153A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350769	NM_001040440.3(CCDC112):c.340A>T (p.Ile114Phe)	CCDC112 (I31F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315502	NM_001040440.3(CCDC112):c.281A>G (p.Asn94Ser)	CCDC112 (N94S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515447	NM_001040440.3(CCDC112):c.251T>A (p.Met84Lys)	CCDC112 (M1K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514407	NM_001040440.3(CCDC112):c.202G>C (p.Ala68Pro)	CCDC112 (A68P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2333264	NM_001040440.3(CCDC112):c.193A>T (p.Thr65Ser)	CCDC112 (T65S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2545697	NM_001040440.3(CCDC112):c.154C>T (p.Pro52Ser)	CCDC112 (P52S)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign

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Items: 31