ClinVar for Gene (Select 256979) - ClinVar

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Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3172127	NM_001030019.2(SUN3):c.323T>G (p.Leu108Arg)	SUN3 (L96R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172126	NM_001030019.2(SUN3):c.265G>A (p.Gly89Ser)	SUN3 (G77S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172125	NM_001030019.2(SUN3):c.257C>T (p.Ala86Val)	SUN3 (A74V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619476	NM_001030019.2(SUN3):c.167T>C (p.Leu56Pro)	SUN3 (L56P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610034	NM_001030019.2(SUN3):c.389T>C (p.Ile130Thr)	SUN3 (I118T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606903	NM_001030019.2(SUN3):c.608A>C (p.Glu203Ala)	SUN3 (E203A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604527	NM_001030019.2(SUN3):c.232T>C (p.Ser78Pro)	SUN3 (S78P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555113	NM_001030019.2(SUN3):c.602C>A (p.Thr201Asn)	SUN3 (T189N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554687	NM_001030019.2(SUN3):c.814T>C (p.Ser272Pro)	SUN3 (S272P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461482	NM_001030019.2(SUN3):c.298C>T (p.Arg100Cys)	SUN3 (R100C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456758	NM_001030019.2(SUN3):c.463G>T (p.Asp155Tyr)	SUN3 (D143Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376830	NM_001030019.2(SUN3):c.670A>T (p.Met224Leu)	SUN3 (M224L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375256	NM_001030019.2(SUN3):c.161T>C (p.Leu54Pro)	SUN3 (L54P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372443	NM_001030019.2(SUN3):c.829A>C (p.Ile277Leu)	SUN3 (I265L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349487	NM_001030019.2(SUN3):c.47G>A (p.Arg16His)	LOC126860025, SUN3 (R16H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295950	NM_001030019.2(SUN3):c.128C>G (p.Thr43Ser)	SUN3 (T43S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295912	NM_001030019.2(SUN3):c.553G>C (p.Ala185Pro)	SUN3 (A173P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268589	NM_001030019.2(SUN3):c.319G>A (p.Glu107Lys)	SUN3 (E95K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261031	NM_001030019.2(SUN3):c.11A>G (p.Lys4Arg)	LOC126860025, SUN3 (K4R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2207744	NM_001030019.2(SUN3):c.956A>G (p.His319Arg)	SUN3 (H319R +1 more)	Single nucleotide variant (missense variant)	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 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	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	ABCA13, ABCB5 +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 152777	GRCh38/hg38 7p12.3(chr7:48012022-48129375)x3	C7orf57, LOC126860025 +5 more	Copy number gain	See cases	GUncertain significance
Select item 148053	GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1	ABCA13, ADCY1 +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	LOC126860033, LOC126860034 +426 more	Copy number loss	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 145645	GRCh38/hg38 7p13-12.1(chr7:44571949-53699760)x1	LOC113748397, LOC113748398 +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: 38