"Ambry Genetics"[submitter] AND "LOC129995613"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3190793	NM_020135.3(WRNIP1):c.386C>T (p.Ala129Val)	LOC129995613, MYLK4 +1 more (A129V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382711	NM_020135.3(WRNIP1):c.395G>C (p.Ser132Thr)	LOC129995613, MYLK4 +1 more (S132T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190794	NM_020135.3(WRNIP1):c.418G>A (p.Gly140Arg)	LOC129995613, MYLK4 +1 more (G140R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272550	NM_020135.3(WRNIP1):c.427C>T (p.Pro143Ser)	LOC129995613, MYLK4 +1 more (P143S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599768	NM_020135.3(WRNIP1):c.440C>T (p.Ala147Val)	LOC129995613, MYLK4 +1 more (A147V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342412	NM_020135.3(WRNIP1):c.443C>T (p.Ala148Val)	LOC129995613, MYLK4 +1 more (A148V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355025	NM_020135.3(WRNIP1):c.449G>C (p.Gly150Ala)	LOC129995613, MYLK4 +1 more (G150A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549296	NM_020135.3(WRNIP1):c.454G>A (p.Ala152Thr)	LOC129995613, MYLK4 +1 more (A152T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546026	NM_020135.3(WRNIP1):c.527G>A (p.Gly176Glu)	LOC129995613, MYLK4 +1 more (G176E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213364	NM_020135.3(WRNIP1):c.547G>A (p.Glu183Lys)	LOC129995613, MYLK4 +1 more (E183K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254802	NM_020135.3(WRNIP1):c.557C>T (p.Pro186Leu)	LOC129995613, MYLK4 +1 more (P186L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190795	NM_020135.3(WRNIP1):c.560G>C (p.Gly187Ala)	LOC129995613, MYLK4 +1 more (G187A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345905	NM_020135.3(WRNIP1):c.581C>T (p.Ala194Val)	LOC129995613, MYLK4 +1 more (A194V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260174	NM_020135.3(WRNIP1):c.614G>A (p.Gly205Glu)	LOC129995613, MYLK4 +1 more (G205E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320243	NM_020135.3(WRNIP1):c.620G>T (p.Arg207Leu)	LOC129995613, MYLK4 +1 more (R207L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190797	NM_020135.3(WRNIP1):c.664C>G (p.Leu222Val)	LOC129995613, MYLK4 +1 more (L222V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219304	NM_020135.3(WRNIP1):c.668A>G (p.Gln223Arg)	LOC129995613, MYLK4 +1 more (Q223R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405303	NM_020135.3(WRNIP1):c.676C>T (p.Pro226Ser)	LOC129995613, MYLK4 +1 more (P226S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294609	NM_020135.3(WRNIP1):c.677C>G (p.Pro226Arg)	LOC129995613, MYLK4 +1 more (P226R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance