ClinVar for Gene (Select 79730) - ClinVar

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Links from Gene

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3202466	NM_024677.6(NSUN7):c.994G>T (p.Asp332Tyr)	NSUN7 (D332Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202465	NM_024677.6(NSUN7):c.863C>T (p.Ala288Val)	NSUN7 (A288V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202464	NM_024677.6(NSUN7):c.856G>A (p.Val286Ile)	NSUN7 (V286I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202463	NM_024677.6(NSUN7):c.616G>A (p.Ala206Thr)	NSUN7 (A206T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202462	NM_024677.6(NSUN7):c.527G>A (p.Arg176Gln)	NSUN7 (R176Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202460	NM_024677.6(NSUN7):c.331A>T (p.Ser111Cys)	NSUN7 (S111C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202459	NM_024677.6(NSUN7):c.25G>A (p.Glu9Lys)	NSUN7 (E9K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202458	NM_024677.6(NSUN7):c.1891C>A (p.Gln631Lys)	NSUN7 (Q631K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3202457	NM_024677.6(NSUN7):c.1888C>T (p.Arg630Trp)	NSUN7 (R630W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3202456	NM_024677.6(NSUN7):c.1883G>A (p.Arg628His)	NSUN7 (R628H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3202454	NM_024677.6(NSUN7):c.1621C>T (p.Arg541Trp)	NSUN7 (R541W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3202453	NM_024677.6(NSUN7):c.1547C>T (p.Ser516Phe)	NSUN7 (S516F)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 2654738	NM_024677.6(NSUN7):c.1037-5C>T	NSUN7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2590284	NM_024677.6(NSUN7):c.774A>C (p.Lys258Asn)	NSUN7 (K258N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2568489	NM_024677.6(NSUN7):c.1912C>T (p.Arg638Trp)	NSUN7 (R638W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2557695	NM_024677.6(NSUN7):c.1394C>T (p.Pro465Leu)	NSUN7 (P465L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553541	NM_024677.6(NSUN7):c.1473G>A (p.Met491Ile)	NSUN7 (M491I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552902	NM_024677.6(NSUN7):c.2136G>T (p.Arg712Ser)	NSUN7 (R712S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2545822	NM_024677.6(NSUN7):c.1040T>C (p.Ile347Thr)	NSUN7 (I347T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537836	NM_024677.6(NSUN7):c.1846C>A (p.Pro616Thr)	NSUN7 (P616T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2511365	NM_024677.6(NSUN7):c.125A>G (p.Tyr42Cys)	NSUN7 (Y42C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506554	GRCh37/hg19 4p14-13(chr4:40337485-41941400)	APBB2, CHRNA9 +6 more	Copy number loss	not provided	GPathogenic
Select item 2485337	NM_024677.6(NSUN7):c.47C>T (p.Pro16Leu)	NSUN7 (P16L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473390	NM_024677.6(NSUN7):c.718G>A (p.Val240Ile)	NSUN7 (V240I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473148	NM_024677.6(NSUN7):c.452T>A (p.Ile151Lys)	NSUN7 (I151K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465111	NM_024677.6(NSUN7):c.1733C>G (p.Ala578Gly)	NSUN7 (A578G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2465022	NM_024677.6(NSUN7):c.425G>A (p.Arg142His)	NSUN7 (R142H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456807	NM_024677.6(NSUN7):c.1067A>G (p.Asn356Ser)	NSUN7 (N356S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396749	NM_024677.6(NSUN7):c.748G>A (p.Val250Ile)	NSUN7 (V250I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383500	NM_024677.6(NSUN7):c.679T>C (p.Tyr227His)	NSUN7 (Y227H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367809	NM_024677.6(NSUN7):c.166G>A (p.Gly56Ser)	NSUN7 (G56S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358604	NM_024677.6(NSUN7):c.1645A>G (p.Lys549Glu)	NSUN7 (K549E)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2318250	NM_024677.6(NSUN7):c.876G>T (p.Met292Ile)	NSUN7 (M292I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317685	NM_024677.6(NSUN7):c.2033G>A (p.Arg678His)	NSUN7 (R678H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2314678	NM_024677.6(NSUN7):c.238G>A (p.Glu80Lys)	NSUN7 (E80K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312263	NM_024677.6(NSUN7):c.1735A>C (p.Asn579His)	NSUN7 (N579H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2308112	NM_024677.6(NSUN7):c.5T>C (p.Leu2Pro)	NSUN7 (L2P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302766	NM_024677.6(NSUN7):c.2029T>G (p.Cys677Gly)	NSUN7 (C677G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2301798	NM_024677.6(NSUN7):c.1882C>T (p.Arg628Cys)	NSUN7 (R628C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2299438	NM_024677.6(NSUN7):c.622A>G (p.Ile208Val)	NSUN7 (I208V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290652	NM_024677.6(NSUN7):c.1774A>G (p.Lys592Glu)	NSUN7 (K592E)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2290651	NM_024677.6(NSUN7):c.1771C>G (p.Gln591Glu)	NSUN7 (Q591E)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2286542	NM_024677.6(NSUN7):c.59C>T (p.Ser20Phe)	NSUN7 (S20F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220144	NM_024677.6(NSUN7):c.1859A>G (p.Lys620Arg)	NSUN7 (K620R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2209374	NM_024677.6(NSUN7):c.1795G>A (p.Ala599Thr)	NSUN7 (A599T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2206591	NM_024677.6(NSUN7):c.955T>G (p.Ser319Ala)	NSUN7 (S319A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1411128	NC_000004.11:g.(?_38765721)_(41750627_?)dup	PHOX2B, WDR19 +22 more	Duplication	Lipoic acid synthetase deficiency	GUncertain significance
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	HTRA3, HTT +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253447	GRCh37/hg19 4p14-11(chr4:38532827-49064044)x3	CHRNA9, CWH43 +54 more	Copy number gain	See cases	GPathogenic
Select item 148977	GRCh38/hg38 4p14-12(chr4:39444586-46117146)x3	APBB2, ATP8A1 +160 more	Copy number gain	See cases	GUncertain significance
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 145612	GRCh38/hg38 4p14-11(chr4:40496476-49579850)x3	LOC126807045, LOC126807046 +171 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 64