Related gene-specific medical variations for Gene (Select 23351) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3316991	NM_020195.3(SDR39U1):c.751G>A (p.Ala251Thr)	KHNYN, SDR39U1 (A262T +7 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3316990	NM_020195.3(SDR39U1):c.712C>T (p.Arg238Cys)	KHNYN, SDR39U1 (R238C +7 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3263652	NM_001039771.3(CBLN3):c.319G>A (p.Gly107Ser)	CBLN3, KHNYN (G107S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159065	NM_020195.3(SDR39U1):c.772G>A (p.Ala258Thr)	KHNYN, SDR39U1 (A258T +7 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3159064	NM_020195.3(SDR39U1):c.716G>A (p.Arg239Gln)	KHNYN, SDR39U1 (R157Q +7 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3159063	NM_020195.3(SDR39U1):c.603C>G (p.Ile201Met)	KHNYN, SDR39U1 (I119M +7 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3159062	NM_020195.3(SDR39U1):c.541G>T (p.Gly181Cys)	KHNYN, SDR39U1 (G192C +6 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3159061	NM_020195.3(SDR39U1):c.289C>T (p.Pro97Ser)	KHNYN, SDR39U1 (P68S +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3138018	NM_001039771.3(CBLN3):c.613C>G (p.Leu205Val)	CBLN3, KHNYN (L205V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138017	NM_001039771.3(CBLN3):c.269A>G (p.Asn90Ser)	CBLN3, KHNYN (N90S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138016	NM_001039771.3(CBLN3):c.17C>T (p.Pro6Leu)	CBLN3, KHNYN (P6L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618455	NM_001039771.3(CBLN3):c.176C>T (p.Pro59Leu)	CBLN3, KHNYN (P59L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617152	NM_001039771.3(CBLN3):c.331C>T (p.Arg111Trp)	CBLN3, KHNYN (R111W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614849	NM_001039771.3(CBLN3):c.295G>A (p.Asp99Asn)	CBLN3, KHNYN (D99N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563670	NM_020195.3(SDR39U1):c.512T>C (p.Met171Thr)	KHNYN, SDR39U1 (M171T +6 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 2552058	NM_020195.3(SDR39U1):c.760G>A (p.Gly254Arg)	KHNYN, SDR39U1 (G146R +7 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2551190	NM_020195.3(SDR39U1):c.526C>T (p.Arg176Cys)	KHNYN, SDR39U1 (R176C +6 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2546808	NM_001039771.3(CBLN3):c.19C>T (p.His7Tyr)	CBLN3, KHNYN (H7Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541615	NM_001039771.3(CBLN3):c.83G>T (p.Gly28Val)	CBLN3, KHNYN (G28V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521975	NM_001039771.3(CBLN3):c.110A>C (p.Glu37Ala)	CBLN3, KHNYN (E37A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520770	NM_001039771.3(CBLN3):c.356C>G (p.Pro119Arg)	CBLN3, KHNYN (P119R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515232	NM_020195.3(SDR39U1):c.587G>T (p.Gly196Val)	KHNYN, SDR39U1 (G167V +6 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2513967	NM_001039771.3(CBLN3):c.349G>A (p.Val117Ile)	CBLN3, KHNYN (V117I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513748	NM_020195.3(SDR39U1):c.785T>C (p.Leu262Pro)	KHNYN, SDR39U1 (L233P +7 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2496010	NM_020195.3(SDR39U1):c.550G>A (p.Gly184Ser)	KHNYN, SDR39U1 (G195S +6 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2470485	NM_020195.3(SDR39U1):c.316G>C (p.Val106Leu)	KHNYN, SDR39U1 (V129L +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2459718	NM_020195.3(SDR39U1):c.244C>T (p.Arg82Cys)	KHNYN, SDR39U1 (R53C +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2456072	NM_020195.3(SDR39U1):c.739G>T (p.Ala247Ser)	KHNYN, SDR39U1 (A139S +7 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2407602	NM_020195.3(SDR39U1):c.323G>A (p.Gly108Asp)	KHNYN, SDR39U1 (G108D +2 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2385474	NM_001039771.3(CBLN3):c.361C>T (p.Arg121Trp)	CBLN3, KHNYN (R121W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384588	NM_001039771.3(CBLN3):c.554G>A (p.Arg185Gln)	CBLN3, KHNYN (R185Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338366	NM_001039771.3(CBLN3):c.356C>T (p.Pro119Leu)	CBLN3, KHNYN (P119L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337757	NM_020195.3(SDR39U1):c.218C>T (p.Thr73Ile)	KHNYN, SDR39U1 (T44I +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2320315	NM_001039771.3(CBLN3):c.131A>C (p.Glu44Ala)	CBLN3, KHNYN (E44A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319564	NM_001039771.3(CBLN3):c.260A>G (p.Glu87Gly)	CBLN3, KHNYN (E87G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304788	NM_001039771.3(CBLN3):c.88G>A (p.Gly30Arg)	CBLN3, KHNYN (G30R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292415	NM_020195.3(SDR39U1):c.527G>A (p.Arg176His)	KHNYN, SDR39U1 (R187H +6 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2255659	NM_001039771.3(CBLN3):c.472C>T (p.Pro158Ser)	CBLN3, KHNYN (P158S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235104	NM_001039771.3(CBLN3):c.364G>A (p.Gly122Ser)	CBLN3, KHNYN (G122S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221621	NM_001039771.3(CBLN3):c.482C>G (p.Thr161Ser)	CBLN3, KHNYN (T161S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219066	NM_020195.3(SDR39U1):c.263T>G (p.Leu88Trp)	KHNYN, SDR39U1 (L88W +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2213944	NM_001039771.3(CBLN3):c.314A>C (p.Glu105Ala)	CBLN3, KHNYN (E105A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213921	NM_001039771.3(CBLN3):c.7G>A (p.Gly3Arg)	CBLN3, KHNYN (G3R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Links from Gene

Items: 43