ClinVar for Gene (Select 56311) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3298125	NM_019644.4(ANKRD7):c.349G>A (p.Asp117Asn)	ANKRD7 (D117N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126948	NM_019644.4(ANKRD7):c.76T>G (p.Leu26Val)	ANKRD7 (L26V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126947	NM_019644.4(ANKRD7):c.550G>A (p.Val184Met)	ANKRD7 (V184M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126946	NM_019644.4(ANKRD7):c.517A>G (p.Met173Val)	ANKRD7 (M173V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126945	NM_019644.4(ANKRD7):c.370C>T (p.Arg124Cys)	ANKRD7 (R124C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126944	NM_019644.4(ANKRD7):c.240G>C (p.Glu80Asp)	ANKRD7 (E80D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613499	NM_019644.4(ANKRD7):c.679C>A (p.Leu227Met)	ANKRD7 (L227M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396245	NM_019644.4(ANKRD7):c.371G>A (p.Arg124His)	ANKRD7 (R124H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387276	NM_019644.4(ANKRD7):c.202G>A (p.Ala68Thr)	ANKRD7 (A68T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355405	NM_019644.4(ANKRD7):c.667G>A (p.Val223Met)	ANKRD7 (V223M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2343937	NM_019644.4(ANKRD7):c.65G>A (p.Arg22Gln)	ANKRD7 (R22Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342512	NM_019644.4(ANKRD7):c.65G>C (p.Arg22Pro)	ANKRD7 (R22P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273120	NM_019644.4(ANKRD7):c.133C>T (p.Leu45Phe)	ANKRD7 (L45F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246683	NM_019644.4(ANKRD7):c.182C>T (p.Thr61Ile)	ANKRD7 (T61I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809066	GRCh37/hg19 7q31.31(chr7:117768606-118009488)x3	ANKRD7, LSM8	Copy number gain	not provided	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 1687716	Single allele	FEZF1, GPR37 +38 more	Deletion	Delayed speech and language development	GLikely pathogenic
Select item 1527383	GRCh37/hg19 7q22.3-32.1(chr7:106984287-128949489)	PRRT4, PTPRZ1 +92 more	Copy number gain	not specified	GPathogenic
Select item 1527380	GRCh37/hg19 7q22.1-31.31(chr7:100676872-119156160)	ALKBH4, ANKRD7 +95 more	Copy number loss	not specified	GPathogenic
Select item 1047873	GRCh37/hg19 7q31.2-31.33(chr7:116297277-126370694)	AASS, ANKRD7 +35 more	Copy number loss	Global developmental delay +2 more	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 815014	GRCh37/hg19 7q22.3-31.32(chr7:106617406-123217914)x1	TMEM168, LAMB4 +59 more	Copy number loss	not provided	GPathogenic
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 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563410	GRCh37/hg19 7q31.2-31.31(chr7:115520087-118098306)x1	CAV2, TFEC +14 more	Copy number loss	not provided	GLikely pathogenic
Select item 563404	GRCh37/hg19 7q31.2-31.31(chr7:117382934-119178959)x3	CTTNBP2, ANKRD7 +1 more	Copy number gain	not provided	GLikely benign
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 253455	GRCh37/hg19 7q31.1-32.1(chr7:111613396-127897316)x1	AASS, RNU2-1 +57 more	Copy number loss	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	LOC129999373, LOC129999374 +492 more	Copy number loss	See cases	GPathogenic
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 148216	GRCh38/hg38 7q31.31(chr7:117758754-119514263)x3	ANKRD7, CTTNBP2 +12 more	Copy number gain	See cases	GUncertain significance
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	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 145985	GRCh38/hg38 7q31.1-31.33(chr7:114142477-125840381)x1	AASS, ANKRD7 +253 more	Copy number loss	See cases	GPathogenic
Select item 60286	GRCh38/hg38 7q31.1-31.33(chr7:113799835-124899218)x1	AASS, ANKRD7 +248 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 39