ClinVar for Gene (Select 3364) - ClinVar

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Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3285084	NM_004507.4(HUS1):c.349G>A (p.Val117Met)	HUS1 (V96M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285083	NM_004507.4(HUS1):c.379C>T (p.Arg127Cys)	HUS1 (R127C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107639	NM_004507.4(HUS1):c.807C>A (p.Asp269Glu)	HUS1 (D248E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107638	NM_004507.4(HUS1):c.580A>G (p.Ile194Val)	HUS1 (I194V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107637	NM_004507.4(HUS1):c.123C>A (p.Phe41Leu)	HUS1 (F20L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622739	NM_004507.4(HUS1):c.206T>C (p.Met69Thr)	HUS1 (M69T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602455	NM_004507.4(HUS1):c.231T>G (p.Asn77Lys)	HUS1 (N56K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569114	NM_004507.4(HUS1):c.28G>T (p.Gly10Trp)	HUS1, LOC129998418 (G10W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2553681	NM_004507.4(HUS1):c.576G>T (p.Leu192Phe)	HUS1 (L171F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455290	NM_004507.4(HUS1):c.679A>G (p.Met227Val)	HUS1 (M206V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346664	NM_004507.4(HUS1):c.254C>T (p.Ser85Leu)	HUS1 (S64L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341226	NM_004507.4(HUS1):c.97C>T (p.Arg33Cys)	HUS1 (R33C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331262	NM_004507.4(HUS1):c.724G>T (p.Ala242Ser)	HUS1 (A242S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302880	NM_004507.4(HUS1):c.70G>A (p.Ala24Thr)	HUS1 (A24T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270322	NM_004507.4(HUS1):c.38T>G (p.Leu13Arg)	HUS1, LOC129998418 (L13R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2250805	NM_004507.4(HUS1):c.94C>G (p.Leu32Val)	HUS1 (L11V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213590	NM_004507.4(HUS1):c.127C>T (p.Leu43Phe)	HUS1 (L22F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527356	GRCh37/hg19 7p14.1-12.2(chr7:40778439-50228656)	ABCA13, ADCY1 +53 more	Copy number loss	not specified	GPathogenic
Select item 1047889	GRCh37/hg19 7p13-12.2(chr7:43341583-50171623)	MRPS24, MYL7 +46 more	Copy number loss	Intracranial hemorrhage	GPathogenic
Select item 771411	NM_004507.4(HUS1):c.51A>G (p.Thr17=)	HUS1, LOC129998418	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	RP9, SCIN +196 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 148053	GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1	LOC121175342, LOC121740678 +380 more	Copy number loss	See cases	GPathogenic
Select item 147754	GRCh38/hg38 7p14.1-12.1(chr7:40020598-50543500)x1	ABCA13, ADCY1 +317 more	Copy number loss	See cases	GPathogenic
Select item 146855	GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1	ABCA13, ADCY1 +426 more	Copy number loss	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 145645	GRCh38/hg38 7p13-12.1(chr7:44571949-53699760)x1	ABCA13, ADCY1 +200 more	Copy number loss	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 59595	GRCh38/hg38 7p12.3(chr7:47843159-48156272)x3	C7orf57, HUS1 +16 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 35