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

Warning: The NCBI web site requires JavaScript to function. more...

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 (missense 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 43