Related gene-specific medical variations for Gene (Select 56897) - ClinVar

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Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3190798	NM_020135.3(WRNIP1):c.852C>G (p.Asn284Lys)	MYLK4, WRNIP1 (N284K)	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 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 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 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 3190792	NM_020135.3(WRNIP1):c.371C>T (p.Pro124Leu)	MYLK4, WRNIP1 (P124L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190791	NM_020135.3(WRNIP1):c.28C>T (p.Pro10Ser)	LOC129995612, MYLK4 +1 more (P10S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190790	NM_020135.3(WRNIP1):c.268G>C (p.Glu90Gln)	MYLK4, WRNIP1 (E90Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190781	NM_020135.3(WRNIP1):c.1225C>T (p.Pro409Ser)	MYLK4, WRNIP1 (P409S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3042810	NM_020135.3(WRNIP1):c.1230G>C (p.Leu410=)	WRNIP1, MYLK4	Single nucleotide variant (5 prime UTR variant +1 more)	WRNIP1-related disorder	GLikely benign
Select item 2656178	NM_020135.3(WRNIP1):c.1002T>C (p.Asn334=)	MYLK4, WRNIP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656177	NM_020135.3(WRNIP1):c.757C>T (p.Arg253Cys)	MYLK4, WRNIP1 (R253C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2656176	NM_020135.3(WRNIP1):c.702C>T (p.Asp234=)	MYLK4, WRNIP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2605140	NM_020135.3(WRNIP1):c.291G>T (p.Glu97Asp)	MYLK4, WRNIP1 (E97D)	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 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 2548719	NM_020135.3(WRNIP1):c.795C>G (p.Ile265Met)	MYLK4, WRNIP1 (I265M)	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 2514122	NM_020135.3(WRNIP1):c.178C>T (p.Arg60Trp)	LOC129995612, MYLK4 +1 more (R60W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486716	NM_020135.3(WRNIP1):c.233C>T (p.Ser78Leu)	MYLK4, WRNIP1 (S78L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483871	NM_020135.3(WRNIP1):c.703A>G (p.Thr235Ala)	MYLK4, WRNIP1 (T235A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462538	NM_020135.3(WRNIP1):c.872G>A (p.Arg291Lys)	MYLK4, WRNIP1 (R291K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411404	NM_020135.3(WRNIP1):c.1096G>A (p.Ala366Thr)	MYLK4, WRNIP1 (A366T +1 more)	Single nucleotide variant (5 prime UTR 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 2398315	NM_020135.3(WRNIP1):c.127C>T (p.His43Tyr)	WRNIP1, LOC129995612 +1 more (H43Y)	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 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 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 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 2336198	NM_020135.3(WRNIP1):c.356G>T (p.Gly119Val)	MYLK4, WRNIP1 (G119V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335796	NM_020135.3(WRNIP1):c.329G>T (p.Ser110Ile)	MYLK4, WRNIP1 (S110I)	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 2298152	NM_020135.3(WRNIP1):c.52G>A (p.Val18Met)	LOC129995612, MYLK4 +1 more (V18M)	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
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 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 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 2224022	NM_020135.3(WRNIP1):c.370C>T (p.Pro124Ser)	MYLK4, WRNIP1 (P124S)	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 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 2211089	NM_020135.3(WRNIP1):c.785C>T (p.Pro262Leu)	MYLK4, WRNIP1 (P262L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 770919	NM_020135.3(WRNIP1):c.863A>G (p.His288Arg)	MYLK4, WRNIP1 (H288R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 732958	NM_020135.3(WRNIP1):c.534G>T (p.Ala178=)	WRNIP1, LOC129995613 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 719968	NM_020135.3(WRNIP1):c.774C>G (p.Thr258=)	MYLK4, WRNIP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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Links from Gene

Items: 44