"Ambry Genetics"[submitter] AND "CCDC148"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2289169	NM_138803.4(CCDC148):c.1691C>A (p.Thr564Lys)	CCDC148, CCDC148-AS1 (T418K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138485	NM_138803.4(CCDC148):c.1622A>G (p.Glu541Gly)	CCDC148, CCDC148-AS1 (E541G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255236	NM_138803.4(CCDC148):c.1540G>A (p.Ala514Thr)	CCDC148, CCDC148-AS1 (A368T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138484	NM_138803.4(CCDC148):c.1364G>C (p.Arg455Thr)	CCDC148, CCDC148-AS1 (R455T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138482	NM_138803.4(CCDC148):c.1031G>T (p.Cys344Phe)	CCDC148 (C198F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138481	NM_138803.4(CCDC148):c.1031G>C (p.Cys344Ser)	CCDC148 (C198S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138490	NM_138803.4(CCDC148):c.894G>T (p.Arg298Ser)	CCDC148 (R298S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138489	NM_138803.4(CCDC148):c.886A>G (p.Lys296Glu)	CCDC148 (K150E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367136	NM_138803.4(CCDC148):c.869A>G (p.Gln290Arg)	CCDC148 (Q144R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138488	NM_138803.4(CCDC148):c.864G>A (p.Met288Ile)	CCDC148 (M288I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279160	NM_138803.4(CCDC148):c.734A>T (p.Asp245Val)	CCDC148 (D245V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361814	NM_138803.4(CCDC148):c.617C>T (p.Pro206Leu)	CCDC148 (P60L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2262497	NM_138803.4(CCDC148):c.609G>C (p.Lys203Asn)	CCDC148 (K203N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138487	NM_138803.4(CCDC148):c.584T>A (p.Ile195Asn)	CCDC148 (I49N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138486	NM_138803.4(CCDC148):c.367C>G (p.Leu123Val)	CCDC148 (L123V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229188	NM_138803.4(CCDC148):c.191C>T (p.Thr64Ile)	CCDC148 (T64I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611847	NM_138803.4(CCDC148):c.161T>A (p.Met54Lys)	CCDC148 (M54K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372554	NM_138803.4(CCDC148):c.98G>A (p.Arg33His)	CCDC148 (R33H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2612737	NM_138803.4(CCDC148):c.97C>T (p.Arg33Cys)	CCDC148 (R33C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2331926	NM_138803.4(CCDC148):c.76C>T (p.Pro26Ser)	CCDC148 (P26S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3138483	NM_138803.4(CCDC148):c.10G>A (p.Ala4Thr)	CCDC148 (A4T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance

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Items: 21