ClinVar for Gene (Select 25778) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369149	NM_015375.3(DSTYK):c.2215C>G (p.Arg739Gly)	DSTYK (R739G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365244	NM_015375.3(DSTYK):c.265+2T>C	DSTYK	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3354278	NM_015375.3(DSTYK):c.1729A>C (p.Ser577Arg)	DSTYK (S577R)	Single nucleotide variant (missense variant)	DSTYK-related disorder	GUncertain significance
Select item 3351786	NM_015375.3(DSTYK):c.653A>G (p.Gln218Arg)	DSTYK (Q218R)	Single nucleotide variant (missense variant)	DSTYK-related disorder	GUncertain significance
Select item 3344447	NM_015375.3(DSTYK):c.2608C>T (p.Arg870Cys)	DSTYK (R825C +1 more)	Single nucleotide variant (missense variant)	DSTYK-related disorder	GUncertain significance
Select item 3273941	NM_015375.3(DSTYK):c.46C>G (p.Pro16Ala)	DSTYK (P16A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273940	NM_015375.3(DSTYK):c.1503C>G (p.Ser501Arg)	DSTYK (S501R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273939	NM_015375.3(DSTYK):c.1140G>T (p.Met380Ile)	DSTYK (M380I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273938	NM_015375.3(DSTYK):c.133C>G (p.Leu45Val)	DSTYK (L45V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273937	NM_015375.3(DSTYK):c.1474G>T (p.Val492Phe)	DSTYK (V492F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273935	NM_015375.3(DSTYK):c.1932G>C (p.Gln644His)	DSTYK (Q644H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 3235733	NM_015375.3(DSTYK):c.1394A>G (p.Gln465Arg)	DSTYK (Q465R)	Single nucleotide variant (missense variant)	Congenital anomalies of kidney and urinary tract 1	GLikely pathogenic
Select item 3234471	NM_015375.3(DSTYK):c.2762C>G (p.Pro921Arg)	DSTYK (P876R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3086049	NM_015375.3(DSTYK):c.643G>A (p.Ala215Thr)	DSTYK (A215T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086048	NM_015375.3(DSTYK):c.632C>T (p.Thr211Met)	DSTYK (T211M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086047	NM_015375.3(DSTYK):c.485G>A (p.Arg162Gln)	DSTYK (R162Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086046	NM_015375.3(DSTYK):c.475A>T (p.Thr159Ser)	DSTYK (T159S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086045	NM_015375.3(DSTYK):c.43G>T (p.Gly15Cys)	DSTYK (G15C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086044	NM_015375.3(DSTYK):c.352G>A (p.Gly118Ser)	DSTYK (G118S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3086043	NM_015375.3(DSTYK):c.31G>C (p.Glu11Gln)	DSTYK, LOC129932301 (E11Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086042	NM_015375.3(DSTYK):c.2410A>G (p.Met804Val)	DSTYK (M804V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086040	NM_015375.3(DSTYK):c.1894C>T (p.Arg632Cys)	DSTYK (R632C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086039	NM_015375.3(DSTYK):c.1861C>A (p.Leu621Ile)	DSTYK (L621I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086038	NM_015375.3(DSTYK):c.1418A>C (p.Asn473Thr)	DSTYK (N473T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086037	NM_015375.3(DSTYK):c.1369A>C (p.Ile457Leu)	DSTYK (I457L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086035	NM_015375.3(DSTYK):c.110A>C (p.Tyr37Ser)	DSTYK (Y37S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065572	NM_015375.3(DSTYK):c.1477G>T (p.Gly493Ter)	DSTYK (G493*)	Single nucleotide variant (nonsense)	Congenital anomalies of kidney and urinary tract 1	GLikely pathogenic
Select item 3061210	NM_015375.3(DSTYK):c.2700C>T (p.Gly900=)	DSTYK	Single nucleotide variant (synonymous variant)	DSTYK-related disorder	GUncertain significance
Select item 3049341	NM_015375.3(DSTYK):c.1677C>G (p.Ala559=)	DSTYK	Single nucleotide variant (synonymous variant)	DSTYK-related disorder	GLikely benign
Select item 3043019	NM_015375.3(DSTYK):c.165C>T (p.Ile55=)	DSTYK	Single nucleotide variant (synonymous variant)	DSTYK-related disorder	GLikely benign
Select item 3017220	NM_015375.3(DSTYK):c.1632A>G (p.Gln544=)	DSTYK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000079	NM_015375.3(DSTYK):c.1641+16T>C	DSTYK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991569	NM_015375.3(DSTYK):c.618G>A (p.Ala206=)	DSTYK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989743	NM_015375.3(DSTYK):c.2618G>A (p.Arg873His)	DSTYK (R828H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988479	NM_015375.3(DSTYK):c.2718C>T (p.Leu906=)	DSTYK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982194	NM_015375.3(DSTYK):c.857C>T (p.Ser286Leu)	DSTYK (S286L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2971180	NM_015375.3(DSTYK):c.2301C>G (p.Phe767Leu)	DSTYK (F767L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964998	NM_015375.3(DSTYK):c.1464G>A (p.Arg488=)	DSTYK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964084	NM_015375.3(DSTYK):c.1949-19C>G	DSTYK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963646	NM_015375.3(DSTYK):c.2114C>T (p.Pro705Leu)	DSTYK (P705L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2961886	NM_015375.3(DSTYK):c.655-16C>T	DSTYK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959889	NM_015375.3(DSTYK):c.1904G>A (p.Arg635His)	DSTYK (R635H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2959348	NM_015375.3(DSTYK):c.2148A>G (p.Ser716=)	DSTYK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958664	NM_015375.3(DSTYK):c.266-17T>C	DSTYK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955459	NM_015375.3(DSTYK):c.1061G>A (p.Arg354His)	DSTYK (R354H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2920185	NM_015375.3(DSTYK):c.914G>A (p.Arg305His)	DSTYK (R305H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2908886	NM_015375.3(DSTYK):c.186T>C (p.Thr62=)	DSTYK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908359	NM_015375.3(DSTYK):c.1969G>C (p.Glu657Gln)	DSTYK (E657Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2907775	NM_015375.3(DSTYK):c.1232G>A (p.Arg411Gln)	DSTYK (R411Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2903734	NM_015375.3(DSTYK):c.663C>A (p.Asp221Glu)	DSTYK (D221E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2900098	NM_015375.3(DSTYK):c.2725A>G (p.Ile909Val)	DSTYK (I864V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2897181	NM_015375.3(DSTYK):c.457C>G (p.Leu153Val)	DSTYK (L153V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2887854	NM_015375.3(DSTYK):c.1791C>T (p.His597=)	DSTYK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887783	NM_015375.3(DSTYK):c.562C>G (p.Pro188Ala)	DSTYK (P188A)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2880821	NM_015375.3(DSTYK):c.1044C>G (p.His348Gln)	DSTYK (H348Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2866235	NM_015375.3(DSTYK):c.63C>A (p.Gly21=)	DSTYK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2863337	NM_015375.3(DSTYK):c.2673C>T (p.Gly891=)	DSTYK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2863217	NM_015375.3(DSTYK):c.1948+19dup	DSTYK	Duplication (intron variant)	not provided	GLikely benign
Select item 2847486	NM_015375.3(DSTYK):c.964G>A (p.Ala322Thr)	DSTYK (A322T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2842271	NM_015375.3(DSTYK):c.2467+6G>A	DSTYK	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2829907	NM_015375.3(DSTYK):c.900A>C (p.Arg300Ser)	DSTYK (R300S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2821785	NM_015375.3(DSTYK):c.499C>T (p.Leu167Phe)	DSTYK (L167F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2817231	NM_015375.3(DSTYK):c.1028T>G (p.Leu343Trp)	DSTYK (L343W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2810494	NM_015375.3(DSTYK):c.1203G>A (p.Leu401=)	DSTYK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2805709	NM_015375.3(DSTYK):c.1681A>T (p.Thr561Ser)	DSTYK (T561S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2783627	NM_015375.3(DSTYK):c.417C>G (p.Thr139=)	DSTYK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2777863	NM_015375.3(DSTYK):c.2519A>G (p.Tyr840Cys)	DSTYK (Y840C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2754945	NM_015375.3(DSTYK):c.226G>T (p.Gly76Cys)	DSTYK (G76C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2732340	NM_015375.3(DSTYK):c.1773T>A (p.Thr591=)	DSTYK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2729962	NM_015375.3(DSTYK):c.1374A>G (p.Lys458=)	DSTYK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2725497	NM_015375.3(DSTYK):c.1840C>T (p.Arg614Trp)	DSTYK (R614W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2722528	NM_015375.3(DSTYK):c.1080G>C (p.Lys360Asn)	DSTYK (K360N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2721158	NM_015375.3(DSTYK):c.532G>A (p.Val178Ile)	DSTYK (V178I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2719919	NM_015375.3(DSTYK):c.1188A>G (p.Lys396=)	DSTYK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2717214	NM_015375.3(DSTYK):c.213C>G (p.Gly71=)	DSTYK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2711991	NM_015375.3(DSTYK):c.2716C>T (p.Leu906Phe)	DSTYK (L861F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2701883	NM_015375.3(DSTYK):c.1982del (p.Gly661fs)	DSTYK (G661fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2693158	NM_015375.3(DSTYK):c.2701A>G (p.Ile901Val)	DSTYK (I856V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2639849	NM_015375.3(DSTYK):c.103C>T (p.Arg35Cys)	DSTYK (R35C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2639848	NM_015375.3(DSTYK):c.771C>T (p.Leu257=)	DSTYK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639847	NM_015375.3(DSTYK):c.1915G>A (p.Glu639Lys)	DSTYK (E639K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2629121	NM_015375.3(DSTYK):c.1612A>T (p.Thr538Ser)	DSTYK (T538S)	Single nucleotide variant (missense variant)	DSTYK-related disorder	GUncertain significance
Select item 2623377	NM_015375.3(DSTYK):c.56G>A (p.Gly19Asp)	DSTYK (G19D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605293	NM_015375.3(DSTYK):c.1949G>A (p.Arg650His)	DSTYK (R650H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599727	NM_015375.3(DSTYK):c.2069A>G (p.His690Arg)	DSTYK (H690R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551396	NM_015375.3(DSTYK):c.886A>G (p.Met296Val)	DSTYK (M296V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534946	NM_015375.3(DSTYK):c.1056G>C (p.Gln352His)	DSTYK (Q352H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522340	NM_015375.3(DSTYK):c.1895G>A (p.Arg632His)	DSTYK (R632H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482607	NM_015375.3(DSTYK):c.1229A>T (p.Asn410Ile)	DSTYK (N410I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464477	NM_015375.3(DSTYK):c.1249A>G (p.Lys417Glu)	DSTYK (K417E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2442584	NM_015375.3(DSTYK):c.178A>G (p.Asn60Asp)	DSTYK (N60D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2441042	NM_015375.3(DSTYK):c.1137C>T (p.Asp379=)	DSTYK	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2441041	NM_015375.3(DSTYK):c.905C>T (p.Pro302Leu)	DSTYK (P302L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441040	NM_015375.3(DSTYK):c.2776G>A (p.Asp926Asn)	DSTYK (D881N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	ADIPOR1, ADORA1 +110 more	Duplication	not provided	GUncertain significance
Select item 2417597	NM_015375.3(DSTYK):c.1436A>C (p.Lys479Thr)	DSTYK (K479T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2415402	NM_015375.3(DSTYK):c.171C>G (p.Cys57Trp)	DSTYK (C57W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2383659	NM_015375.3(DSTYK):c.22T>G (p.Trp8Gly)	DSTYK, LOC129932301 (W8G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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