"Ambry Genetics"[submitter] AND "HAPLN3"[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2507568	NM_178232.4(HAPLN3):c.1057G>A (p.Gly353Ser)	HAPLN3 (G353S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374654	NM_178232.4(HAPLN3):c.1036G>A (p.Asp346Asn)	HAPLN3 (D346N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215219	NM_178232.4(HAPLN3):c.997G>T (p.Gly333Trp)	HAPLN3 (G333W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378996	NM_178232.4(HAPLN3):c.964C>T (p.Arg322Cys)	HAPLN3 (R384C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385869	NM_178232.4(HAPLN3):c.961G>A (p.Val321Ile)	HAPLN3 (V321I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599080	NM_178232.4(HAPLN3):c.904G>T (p.Ala302Ser)	HAPLN3 (A364S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254673	NM_178232.4(HAPLN3):c.875C>T (p.Thr292Met)	HAPLN3 (T292M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609810	NM_178232.4(HAPLN3):c.757C>T (p.His253Tyr)	HAPLN3 (H315Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550914	NM_178232.4(HAPLN3):c.742C>T (p.Arg248Cys)	HAPLN3 (R248C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604666	NM_178232.4(HAPLN3):c.707C>T (p.Pro236Leu)	HAPLN3 (P236L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2614239	NM_178232.4(HAPLN3):c.680T>C (p.Met227Thr)	HAPLN3 (M289T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2493498	NM_178232.4(HAPLN3):c.673C>T (p.Pro225Ser)	HAPLN3 (P287S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394382	NM_178232.4(HAPLN3):c.641C>T (p.Ala214Val)	HAPLN3 (A214V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462909	NM_178232.4(HAPLN3):c.640G>A (p.Ala214Thr)	HAPLN3 (A214T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260799	NM_178232.4(HAPLN3):c.589T>G (p.Ser197Ala)	HAPLN3 (S259A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321443	NM_178232.4(HAPLN3):c.546C>G (p.His182Gln)	HAPLN3 (H244Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597346	NM_178232.4(HAPLN3):c.469G>T (p.Gly157Cys)	HAPLN3 (G157C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341512	NM_178232.4(HAPLN3):c.469G>A (p.Gly157Ser)	HAPLN3 (G157S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604730	NM_178232.4(HAPLN3):c.451G>T (p.Gly151Trp)	HAPLN3 (G151W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602497	NM_178232.4(HAPLN3):c.434G>A (p.Arg145His)	HAPLN3 (R145H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217431	NM_178232.4(HAPLN3):c.424G>A (p.Gly142Arg)	HAPLN3 (G142R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399097	NM_178232.4(HAPLN3):c.410G>A (p.Arg137Gln)	HAPLN3 (R199Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297298	NM_178232.4(HAPLN3):c.409C>T (p.Arg137Trp)	HAPLN3 (R137W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516176	NM_178232.4(HAPLN3):c.405T>A (p.Asp135Glu)	HAPLN3 (D135E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366373	NM_178232.4(HAPLN3):c.389C>T (p.Ser130Leu)	HAPLN3 (S130L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368149	NM_178232.4(HAPLN3):c.377A>G (p.Glu126Gly)	HAPLN3 (E126G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602438	NM_178232.4(HAPLN3):c.353G>A (p.Arg118His)	HAPLN3 (R180H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485018	NM_178232.4(HAPLN3):c.353G>T (p.Arg118Leu)	HAPLN3 (R118L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342423	NM_178232.4(HAPLN3):c.329G>A (p.Arg110His)	HAPLN3 (R110H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238465	NM_178232.4(HAPLN3):c.275C>T (p.Ser92Leu)	HAPLN3 (S154L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467566	NM_178232.4(HAPLN3):c.241C>T (p.Pro81Ser)	HAPLN3 (P143S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457914	NM_178232.4(HAPLN3):c.206C>T (p.Pro69Leu)	HAPLN3 (P69L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278940	NM_178232.4(HAPLN3):c.181T>C (p.Tyr61His)	HAPLN3 (Y123H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2540128	NM_178232.4(HAPLN3):c.170C>T (p.Thr57Ile)	HAPLN3 (T119I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360313	NM_178232.4(HAPLN3):c.163G>A (p.Glu55Lys)	HAPLN3 (E117K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 35