"Ambry Genetics"[submitter] AND "HAL"[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 310718	NM_002108.4(HAL):c.493G>A (p.Gly165Ser)	HAL (G165S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	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 310722	NM_002108.4(HAL):c.398G>A (p.Arg133His)	HAL (R133H)	Single nucleotide variant (5 prime UTR variant +1 more)	Histidinemia +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 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 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 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

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Items: 43