LLPH[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150076	GRCh38/hg38 12q14.1-14.3(chr12:60907151-66568077)x1	AVPR1A, C12orf56 +144 more	Copy number loss	See cases	GPathogenic
Select item 3235055	GRCh38/hg38 12q14.2-15(chr12:63871239-67314524)	LOC124629394, LOC124629395 +108 more	Copy number loss	Silver-Russell syndrome 5	GUncertain significance
Select item 154378	GRCh38/hg38 12q14.3-15(chr12:65445176-71026337)x1	IL22, BEST3 +163 more	Copy number loss	See cases	GPathogenic
Select item 3290874	NM_032338.4(LLPH):c.368T>A (p.Val123Glu)	LLPH (V123E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225914	NM_032338.4(LLPH):c.286T>C (p.Trp96Arg)	LLPH (W96R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478870	NM_032338.4(LLPH):c.281C>T (p.Pro94Leu)	LLPH (P94L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119191	NM_032338.4(LLPH):c.232G>A (p.Asp78Asn)	LLPH (D78N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327548	NM_032338.4(LLPH):c.175C>A (p.Gln59Lys)	LLPH (Q59K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329063	NM_032338.4(LLPH):c.164C>T (p.Pro55Leu)	LLPH (P55L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326610	NM_032338.4(LLPH):c.148G>A (p.Val50Met)	LLPH (V50M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482377	NM_032338.4(LLPH):c.41G>A (p.Arg14His)	LLPH (R14H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244245	NC_000012.11:g.(?_64173741)_(68052493_?)del	DYRK2, GNS +18 more	Deletion	Mucopolysaccharidosis, MPS-III-D	GPathogenic
Select item 3063238	GRCh37/hg19 12q14.3(chr12:65462762-66830065)x1	GRIP1, HELB +7 more	Copy number loss	not specified	GPathogenic
Select item 2685438	GRCh37/hg19 12q14.3(chr12:65716808-66690108)x1	HMGA2, IRAK3 +3 more	Copy number loss	not provided	GPathogenic
Select item 2685437	GRCh37/hg19 12q14.1-15(chr12:61755618-70035424)x1	AVPR1A, C12orf56 +40 more	Copy number loss	not provided	GPathogenic
Select item 2684676	GRCh37/hg19 12q14.3(chr12:66460527-67175455)x3	GRIP1, HELB +3 more	Copy number gain	not provided	GUncertain significance
Select item 1879249	GRCh37/hg19 12q14.2-15(chr12:64609458-70352103)x1	BEST3, C12orf56 +34 more	Copy number loss	not provided	GPathogenic
Select item 1340105	GRCh37/hg19 12q14.3-15(chr12:66045645-68872343)x1	CAND1, DYRK2 +10 more	Copy number loss	not provided	GPathogenic
Select item 1180525	GRCh37/hg19 12q14.3-21.1(chr12:65251705-75263379)x1	CAND1, RAB3IP +42 more	Copy number loss	not provided	GPathogenic
Select item 688292	GRCh37/hg19 12q14.3(chr12:66285627-66718973)x3	HELB, HMGA2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 685804	GRCh37/hg19 12q14.3(chr12:66200777-66575257)x1	HMGA2, LLPH +1 more	Copy number loss	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 25