"Ambry Genetics"[submitter] AND "COMMD1"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2400552	NM_006430.4(CCT4):c.71A>T (p.Tyr24Phe)	CCT4, COMMD1 (Y24F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546230	NM_006430.4(CCT4):c.59G>A (p.Gly20Glu)	CCT4, COMMD1 (G20E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217999	NM_152516.4(COMMD1):c.15G>C (p.Glu5Asp)	COMMD1 (E5D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147907	NM_152516.4(COMMD1):c.74A>G (p.His25Arg)	COMMD1, LOC129933847 (H25R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391851	NM_152516.4(COMMD1):c.83C>T (p.Pro28Leu)	COMMD1, LOC129933847 (P28L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268911	NM_152516.4(COMMD1):c.98A>T (p.Glu33Val)	COMMD1, LOC129933847 (E33V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285540	NM_152516.4(COMMD1):c.116T>C (p.Leu39Pro)	COMMD1, LOC129933847 (L39P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3147905	NM_152516.4(COMMD1):c.184A>G (p.Ile62Val)	COMMD1 (I62V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3268912	NM_152516.4(COMMD1):c.229A>G (p.Thr77Ala)	COMMD1 (T11A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463895	NM_152516.4(COMMD1):c.362G>A (p.Gly121Asp)	COMMD1 (G121D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268913	NM_152516.4(COMMD1):c.409C>G (p.Gln137Glu)	COMMD1 (Q71E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396646	NM_152516.4(COMMD1):c.414A>G (p.Ile138Met)	COMMD1 (I72M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147906	NM_152516.4(COMMD1):c.435A>G (p.Ile145Met)	COMMD1 (I145M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2324209	NM_152516.4(COMMD1):c.444A>C (p.Glu148Asp)	COMMD1 (E148D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205336	NM_152516.4(COMMD1):c.515T>C (p.Leu172Pro)	COMMD1 (L106P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512627	NM_152516.4(COMMD1):c.548G>T (p.Ser183Ile)	COMMD1 (S117I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance