ClinVar for Gene (Select 126860473) - ClinVar

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Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3352523	NM_177531.6(PKHD1L1):c.12330+2T>A	LOC126860473, PKHD1L1	Single nucleotide variant (splice donor variant)	PKHD1L1-related disorder	GUncertain significance
Select item 3307035	NM_177531.6(PKHD1L1):c.12299A>G (p.Gln4100Arg)	LOC126860473, PKHD1L1 (Q4100R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307015	NM_177531.6(PKHD1L1):c.12308C>T (p.Ser4103Leu)	LOC126860473, PKHD1L1 (S4103L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213788	NM_177531.6(PKHD1L1):c.12340G>T (p.Val4114Leu)	LOC126860473, PKHD1L1 (V4114L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213787	NM_177531.6(PKHD1L1):c.12338G>C (p.Cys4113Ser)	LOC126860473, PKHD1L1 (C4113S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213786	NM_177531.6(PKHD1L1):c.12220G>A (p.Val4074Ile)	LOC126860473, PKHD1L1 (V4074I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658752	NM_177531.6(PKHD1L1):c.12330+1G>A	LOC126860473, PKHD1L1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2613843	NM_177531.6(PKHD1L1):c.12403G>C (p.Val4135Leu)	LOC126860473, PKHD1L1 (V4135L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481218	NM_177531.6(PKHD1L1):c.12104G>A (p.Ser4035Asn)	LOC126860473, PKHD1L1 (S4035N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378613	NM_177531.6(PKHD1L1):c.12200T>G (p.Val4067Gly)	LOC126860473, PKHD1L1 (V4067G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327246	NM_177531.6(PKHD1L1):c.12350G>T (p.Gly4117Val)	LOC126860473, PKHD1L1 (G4117V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234313	NM_177531.6(PKHD1L1):c.12140T>A (p.Ile4047Asn)	LOC126860473, PKHD1L1 (I4047N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 153936	GRCh38/hg38 8q23.1-23.2(chr8:108988194-109697085)x3	EBAG9, ENY2 +15 more	Copy number gain	See cases	GLikely benign
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 58431	GRCh38/hg38 8q23.1-23.2(chr8:107356178-110913494)x3	ANGPT1, EBAG9 +32 more	Copy number gain	See cases	GUncertain significance
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 30