ClinVar for Gene (Select 3034) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3283440	NM_002108.4(HAL):c.1513G>A (p.Ala505Thr)	HAL (A297T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283439	NM_002108.4(HAL):c.1279G>A (p.Asp427Asn)	HAL (D219N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283438	NM_002108.4(HAL):c.1423T>C (p.Cys475Arg)	HAL (C475R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283437	NM_002108.4(HAL):c.327G>C (p.Glu109Asp)	HAL (E109D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3283435	NM_002108.4(HAL):c.166C>A (p.Arg56Ser)	HAL (R56S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3283434	NM_002108.4(HAL):c.1750C>T (p.Arg584Cys)	HAL (R584C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104169	NM_002108.4(HAL):c.983G>A (p.Arg328Gln)	HAL (R120Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104168	NM_002108.4(HAL):c.64C>T (p.Leu22Phe)	HAL (L22F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3104167	NM_002108.4(HAL):c.590G>A (p.Gly197Asp)	HAL (G197D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3104166	NM_002108.4(HAL):c.22G>A (p.Val8Ile)	HAL (V8I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3104165	NM_002108.4(HAL):c.208C>T (p.Leu70Phe)	HAL (L70F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3104164	NM_002108.4(HAL):c.1550C>T (p.Ser517Leu)	HAL (S517L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104163	NM_002108.4(HAL):c.1505C>T (p.Thr502Met)	HAL (T294M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104162	NM_002108.4(HAL):c.1211A>G (p.His404Arg)	HAL (H196R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104161	NM_002108.4(HAL):c.1127A>G (p.His376Arg)	HAL, LOC128772385 (H168R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050250	NM_002108.4(HAL):c.248-5T>C	HAL	Single nucleotide variant (intron variant)	HAL-related disorder	GLikely benign
Select item 3049626	NM_002108.4(HAL):c.285A>T (p.Pro95=)	HAL	Single nucleotide variant (5 prime UTR variant +1 more)	HAL-related disorder	GLikely benign
Select item 3043109	NM_002108.4(HAL):c.1956G>A (p.Pro652=)	HAL	Single nucleotide variant (synonymous variant +1 more)	HAL-related disorder	GLikely benign
Select item 3042715	NM_002108.4(HAL):c.1800C>T (p.Ile600=)	HAL	Single nucleotide variant (synonymous variant +1 more)	HAL-related disorder	GLikely benign
Select item 3035284	NM_002108.4(HAL):c.1578A>G (p.Ala526=)	HAL	Single nucleotide variant (synonymous variant)	HAL-related disorder	GLikely benign
Select item 2606816	NM_002108.4(HAL):c.1131C>A (p.His377Gln)	HAL, LOC128772385 (H377Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2573484	NM_002108.4(HAL):c.840G>A (p.Trp280Ter)	HAL (W280* +1 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 2569058	NM_002108.4(HAL):c.76T>C (p.Trp26Arg)	HAL (W26R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2557186	NM_002108.4(HAL):c.121G>T (p.Asp41Tyr)	HAL (D41Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2528813	NM_002108.4(HAL):c.1798A>G (p.Ile600Val)	HAL (I392V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511892	NM_002108.4(HAL):c.1354G>T (p.Ala452Ser)	HAL (A244S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494756	NM_002108.4(HAL):c.496A>G (p.Ile166Val)	HAL (I166V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486844	NM_002108.4(HAL):c.274G>A (p.Asp92Asn)	HAL (D92N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2444415	NM_002108.4(HAL):c.1018G>A (p.Val340Met)	HAL (V132M +1 more)	Single nucleotide variant (missense variant)	Histidinemia	GUncertain significance
Select item 2432363	NM_002108.4(HAL):c.578C>G (p.Ser193Ter)	HAL (S193*)	Single nucleotide variant (5 prime UTR variant +1 more)	Histidinemia	GUncertain significance
Select item 2408358	NM_002108.4(HAL):c.1951A>G (p.Ile651Val)	HAL (I651V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402478	NM_002108.4(HAL):c.940T>C (p.Ser314Pro)	HAL (S314P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397140	NM_002108.4(HAL):c.223G>A (p.Glu75Lys)	HAL (E75K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2384474	NM_002108.4(HAL):c.1373T>C (p.Ile458Thr)	HAL (I250T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338158	NM_002108.4(HAL):c.1781G>A (p.Arg594His)	HAL (R386H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329259	NM_002108.4(HAL):c.1702C>T (p.Arg568Cys)	HAL (R360C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315527	NM_002108.4(HAL):c.1969C>T (p.Leu657Phe)	HAL (L657F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302086	NM_002108.4(HAL):c.803T>C (p.Val268Ala)	HAL (V268A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301550	NM_002108.4(HAL):c.653T>C (p.Leu218Ser)	HAL (L218S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296341	NM_002108.4(HAL):c.1948A>G (p.Lys650Glu)	HAL (K442E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296045	NM_002108.4(HAL):c.1686G>C (p.Gln562His)	HAL (Q354H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286443	NM_002108.4(HAL):c.1681T>A (p.Cys561Ser)	HAL (C353S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265709	NM_002108.4(HAL):c.1229C>T (p.Thr410Ile)	HAL (T202I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257458	NM_002108.4(HAL):c.1507G>A (p.Ala503Thr)	HAL (A295T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246286	NM_002108.4(HAL):c.470T>G (p.Ile157Arg)	HAL (I157R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2245800	NM_002108.4(HAL):c.743A>C (p.Lys248Thr)	HAL (K248T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243335	NM_002108.4(HAL):c.1283A>C (p.Asn428Thr)	HAL (N220T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241762	NM_002108.4(HAL):c.1168C>T (p.Arg390Cys)	HAL (R182C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807664	GRCh37/hg19 12q23.1(chr12:96279628-96608563)x3	AMDHD1, CCDC38 +3 more	Copy number gain	not provided	GUncertain significance
Select item 883859	NM_002108.4(HAL):c.-139C>A	HAL	Single nucleotide variant (5 prime UTR variant)	Histidinemia	GUncertain significance
Select item 883800	NM_002108.4(HAL):c.724C>A (p.Leu242Met)	HAL (L242M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 883799	NM_002108.4(HAL):c.751G>A (p.Val251Ile)	HAL (V43I +1 more)	Single nucleotide variant (missense variant)	Histidinemia	GUncertain significance
Select item 883751	NM_002108.4(HAL):c.1764-4G>T	HAL	Single nucleotide variant (intron variant)	Histidinemia	GUncertain significance
Select item 883750	NM_002108.4(HAL):c.1794G>A (p.Pro598=)	HAL	Single nucleotide variant (synonymous variant +1 more)	Histidinemia	GUncertain significance
Select item 883749	NM_002108.4(HAL):c.1823T>C (p.Leu608Pro)	HAL (L400P +1 more)	Single nucleotide variant (missense variant +1 more)	Histidinemia	GUncertain significance
Select item 883748	NM_002108.4(HAL):c.1933C>T (p.His645Tyr)	HAL (H437Y +1 more)	Single nucleotide variant (missense variant +1 more)	Histidinemia	GUncertain significance
Select item 883747	NM_002108.4(HAL):c.*4G>A	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GUncertain significance
Select item 883089	NM_002108.4(HAL):c.-38C>T	HAL	Single nucleotide variant (5 prime UTR variant)	Histidinemia +1 more	GLikely benign
Select item 883088	NM_002108.4(HAL):c.-7C>T	HAL	Single nucleotide variant (5 prime UTR variant)	Histidinemia	GUncertain significance
Select item 883087	NM_002108.4(HAL):c.-5G>A	HAL	Single nucleotide variant (5 prime UTR variant)	Histidinemia	GUncertain significance
Select item 883086	NM_002108.4(HAL):c.25C>T (p.Arg9Cys)	HAL (R9C)	Single nucleotide variant (5 prime UTR variant +1 more)	Histidinemia +1 more	GUncertain significance
Select item 883085	NM_002108.4(HAL):c.33A>G (p.Glu11=)	HAL	Single nucleotide variant (5 prime UTR variant +1 more)	Histidinemia	GUncertain significance
Select item 883084	NM_002108.4(HAL):c.86G>A (p.Arg29Gln)	HAL (R29Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Histidinemia	GUncertain significance
Select item 883083	NM_002108.4(HAL):c.181C>T (p.Leu61=)	HAL	Single nucleotide variant (5 prime UTR variant +1 more)	Histidinemia	GUncertain significance
Select item 883018	NM_002108.4(HAL):c.1076G>A (p.Arg359His)	HAL (R151H +1 more)	Single nucleotide variant (missense variant)	Histidinemia	GUncertain significance
Select item 883017	NM_002108.4(HAL):c.1090G>A (p.Val364Ile)	HAL (V156I +1 more)	Single nucleotide variant (missense variant)	Histidinemia	GUncertain significance
Select item 883016	NM_002108.4(HAL):c.1163G>A (p.Cys388Tyr)	HAL (C180Y +1 more)	Single nucleotide variant (missense variant)	Histidinemia	GUncertain significance
Select item 883015	NM_002108.4(HAL):c.1169G>A (p.Arg390His)	HAL (R182H +1 more)	Single nucleotide variant (missense variant)	Histidinemia	GUncertain significance
Select item 883014	NM_002108.4(HAL):c.1277C>G (p.Thr426Arg)	HAL (T426R +1 more)	Single nucleotide variant (missense variant)	Histidinemia	GUncertain significance
Select item 882952	NM_002108.4(HAL):c.*530T>G	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia +1 more	GLikely benign
Select item 881913	NM_002108.4(HAL):c.287C>T (p.Ser96Phe)	HAL (S96F)	Single nucleotide variant (5 prime UTR variant +1 more)	Histidinemia	GUncertain significance
Select item 881912	NM_002108.4(HAL):c.345G>A (p.Glu115=)	HAL	Single nucleotide variant (5 prime UTR variant +1 more)	Histidinemia	GLikely benign
Select item 881911	NM_002108.4(HAL):c.368C>T (p.Thr123Met)	HAL (T123M)	Single nucleotide variant (5 prime UTR variant +1 more)	Histidinemia	GUncertain significance
Select item 881910	NM_002108.4(HAL):c.421A>G (p.Thr141Ala)	HAL (T141A)	Single nucleotide variant (5 prime UTR variant +1 more)	Histidinemia	GUncertain significance
Select item 881848	NM_002108.4(HAL):c.1329C>G (p.Asn443Lys)	HAL (N235K +1 more)	Single nucleotide variant (missense variant)	Histidinemia	GUncertain significance
Select item 881847	NM_002108.4(HAL):c.1428T>G (p.Asn476Lys)	HAL (N268K +1 more)	Single nucleotide variant (missense variant)	Histidinemia +1 more	GUncertain significance
Select item 881802	NM_002108.4(HAL):c.*547G>T	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GUncertain significance
Select item 881801	NM_002108.4(HAL):c.*673T>C	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GUncertain significance
Select item 881470	NM_002108.4(HAL):c.438G>A (p.Val146=)	HAL	Single nucleotide variant (5 prime UTR variant +1 more)	Histidinemia	GUncertain significance
Select item 881469	NM_002108.4(HAL):c.590G>C (p.Gly197Ala)	HAL (G197A)	Single nucleotide variant (5 prime UTR variant +1 more)	Histidinemia	GUncertain significance
Select item 881468	NM_002108.4(HAL):c.623G>A (p.Arg208Gln)	HAL (R208Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Histidinemia	GUncertain significance
Select item 881413	NM_002108.4(HAL):c.1472G>T (p.Gly491Val)	HAL (G283V +1 more)	Single nucleotide variant (missense variant)	Histidinemia	GUncertain significance
Select item 881412	NM_002108.4(HAL):c.1594G>A (p.Val532Ile)	HAL (V324I +1 more)	Single nucleotide variant (missense variant)	Histidinemia	GUncertain significance
Select item 881411	NM_002108.4(HAL):c.1609T>C (p.Trp537Arg)	HAL (W329R +1 more)	Single nucleotide variant (missense variant)	Histidinemia	GUncertain significance
Select item 881410	NM_002108.4(HAL):c.1645G>A (p.Val549Met)	HAL (V341M +1 more)	Single nucleotide variant (missense variant)	Histidinemia	GUncertain significance
Select item 881409	NM_002108.4(HAL):c.1724C>T (p.Pro575Leu)	HAL (P575L +1 more)	Single nucleotide variant (missense variant)	Histidinemia	GUncertain significance
Select item 881408	NM_002108.4(HAL):c.1754C>G (p.Ser585Cys)	HAL (S585C +1 more)	Single nucleotide variant (missense variant)	Histidinemia	GUncertain significance
Select item 881357	NM_002108.4(HAL):c.*914T>C	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GLikely benign
Select item 881356	NM_002108.4(HAL):c.*1300T>G	HAL	Single nucleotide variant (3 prime UTR variant)	Histidinemia	GUncertain significance
Select item 779267	NM_002108.4(HAL):c.715+9A>G	HAL	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 776737	NM_002108.4(HAL):c.1378A>C (p.Ile460Leu)	HAL (I460L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 773028	NM_002108.4(HAL):c.492C>T (p.Tyr164=)	HAL	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 750733	NM_002108.4(HAL):c.1593C>T (p.His531=)	HAL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732015	NM_002108.4(HAL):c.1584G>A (p.Thr528=)	HAL	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 726810	NM_002108.4(HAL):c.285A>G (p.Pro95=)	HAL	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 716289	NM_002108.4(HAL):c.717C>T (p.Ala239=)	HAL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 632205	NM_002108.4(HAL):c.309-2A>G	HAL	Single nucleotide variant (splice acceptor variant)	Histidinemia	GUncertain significance
Select item 632204	NM_002108.4(HAL):c.475G>T (p.Glu159Ter)	HAL (E159*)	Single nucleotide variant (5 prime UTR variant +1 more)	Histidinemia	GUncertain significance
Select item 632203	NM_002108.4(HAL):c.484+1G>A	HAL	Single nucleotide variant (splice donor variant)	Histidinemia	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic

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