ClinVar for Gene (Select 57001) - ClinVar

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Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3316876	NM_020186.3(SDHAF3):c.226A>G (p.Thr76Ala)	SDHAF3 (T76A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316875	NM_020186.3(SDHAF3):c.5C>T (p.Pro2Leu)	SDHAF3 (P2L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	ACHE, ACTL6B +106 more	Deletion	not provided	GPathogenic
Select item 3158924	NM_020186.3(SDHAF3):c.336T>G (p.Asn112Lys)	SDHAF3 (N112K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618999	NM_020186.3(SDHAF3):c.61C>G (p.Arg21Gly)	SDHAF3 (R21G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605349	NM_020186.3(SDHAF3):c.15C>A (p.His5Gln)	SDHAF3 (H5Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460699	NM_020186.3(SDHAF3):c.28C>T (p.Arg10Trp)	SDHAF3 (R10W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427215	NC_000007.13:g.(?_96318236)_(97493828_?)dup	ASNS, DLX5 +4 more	Duplication	not provided	GUncertain significance
Select item 2405675	NM_020186.3(SDHAF3):c.73C>T (p.Pro25Ser)	LOC129998839, SDHAF3 (P25S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370378	NM_020186.3(SDHAF3):c.10C>T (p.Arg4Trp)	SDHAF3 (R4W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205864	NM_020186.3(SDHAF3):c.361A>G (p.Met121Val)	SDHAF3 (M121V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808653	GRCh37/hg19 7q21.2-22.1(chr7:92721627-98311537)x1	ASB4, ASNS +34 more	Copy number loss	not provided	GPathogenic
Select item 1807807	GRCh37/hg19 7q21.3(chr7:96264152-96860892)x1	DLX5, DLX6 +2 more	Copy number loss	not provided	GPathogenic
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 1459945	NC_000007.13:g.(?_95434042)_(96747209_?)del	C7orf76, DLX5 +5 more	Deletion	not provided	GPathogenic
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 979634	GRCh37/hg19 7q21.3(chr7:96743177-96876984)x1	SDHAF3	Copy number loss	not provided	GUncertain significance
Select item 974791	GRCh37/hg19 7q21.3(chr7:95931567-97254397)x1	C7orf76, DLX5 +4 more	Copy number loss	Microcephaly +1 more	GLikely pathogenic
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 545583	GRCh37/hg19 7q21.2-22.1(chr7:92445452-99686985)x1	CYP3A4, TAC1 +65 more	Copy number loss	Split hand-foot malformation 1	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 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395018	GRCh37/hg19 7q21.3(chr7:96066104-97428089)x3	C7orf76, DLX5 +4 more	Copy number gain	See cases	GUncertain significance
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 153321	GRCh38/hg38 7q21.2-21.3(chr7:92759144-97568646)x1	LOC110121296, LOC111365161 +110 more	Copy number loss	See cases	GPathogenic
Select item 152344	GRCh38/hg38 7q21.3(chr7:96924153-97157268)x1	DLX5, DLX6 +9 more	Copy number loss	See cases	GPathogenic
Select item 146112	GRCh38/hg38 7q21.3(chr7:95127070-97873487)x1	ASB4, ASNS +61 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

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Links from Gene

Items: 30