780[Gene ID] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 731041	NM_001297654.2(DDR1):c.49A>G (p.Ser17Gly)	DDR1 (S17G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1679763	Single allele	DDR1, GTF2H4 +8 more	Duplication	not provided	GUncertain significance
Select item 3080812	NM_001297654.2(DDR1):c.182A>G (p.His61Arg)	DDR1 (H61R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400318	NM_001297654.2(DDR1):c.196A>G (p.Ser66Gly)	DDR1 (S66G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271224	NM_001297654.2(DDR1):c.283C>T (p.His95Tyr)	DDR1 (H113Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080820	NM_001297654.2(DDR1):c.404G>A (p.Arg135His)	DDR1 (R153H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386060	NM_001297654.2(DDR1):c.514C>T (p.Arg172Trp)	DDR1 (R172W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226639	NM_001297654.2(DDR1):c.569G>A (p.Gly190Glu)	DDR1 (G208E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080821	NM_001297654.2(DDR1):c.592G>C (p.Val198Leu)	DDR1 (V216L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080822	NM_001297654.2(DDR1):c.608A>G (p.Tyr203Cys)	DDR1 (Y203C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080823	NM_001297654.2(DDR1):c.791C>T (p.Ser264Phe)	DDR1 (S282F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080824	NM_001297654.2(DDR1):c.886C>T (p.Arg296Cys)	DDR1 (R296C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271225	NM_001297654.2(DDR1):c.917G>A (p.Arg306Gln)	DDR1 (R324Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471174	NM_001297654.2(DDR1):c.1045C>T (p.Arg349Cys)	DDR1 (R349C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330222	NM_001297654.2(DDR1):c.1046G>A (p.Arg349His)	DDR1 (R349H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521398	NM_001297654.2(DDR1):c.1058C>T (p.Ala353Val)	DDR1 (A353V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338970	NM_001297654.2(DDR1):c.1087T>C (p.Ser363Pro)	DDR1 (S363P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271222	NM_001297654.2(DDR1):c.1121C>T (p.Pro374Leu)	DDR1 (P392L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2390352	NM_001297654.2(DDR1):c.1142C>T (p.Pro381Leu)	DDR1 (P381L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080808	NM_001297654.2(DDR1):c.1147G>C (p.Ala383Pro)	DDR1 (A401P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271223	NM_001297654.2(DDR1):c.1148C>T (p.Ala383Val)	DDR1 (A383V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393169	NM_001297654.2(DDR1):c.1331G>A (p.Arg444His)	DDR1 (R444H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412140	NM_001297654.2(DDR1):c.1335G>C (p.Arg445Ser)	DDR1 (R445S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080809	NM_001297654.2(DDR1):c.1448C>T (p.Pro483Leu)	DDR1 (P501L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731325	NM_001297654.2(DDR1):c.1462C>T (p.Arg488Trp)	DDR1 (R488W)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2507822	NM_001297654.2(DDR1):c.1571C>T (p.Pro524Leu)	DDR1 (P524L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409183	NM_001297654.2(DDR1):c.1580C>T (p.Pro527Leu)	DDR1 (P527L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080810	NM_001297654.2(DDR1):c.1642A>G (p.Met548Val)	DDR1 (M529V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080811	NM_001297654.2(DDR1):c.1667C>T (p.Pro556Leu)	DDR1 (P519L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2656344	NM_001297654.2(DDR1):c.1710C>T (p.Ala570=)	DDR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2530167	NM_001297654.2(DDR1):c.1765C>T (p.Pro589Ser)	DDR1 (P570S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080813	NM_001297654.2(DDR1):c.1849G>A (p.Gly617Ser)	DDR1 (G598S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539659	NM_001297654.2(DDR1):c.1978G>A (p.Asp660Asn)	DDR1 (D623N +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3080814	NM_001297654.2(DDR1):c.2057G>A (p.Arg686Gln)	DDR1 (R540Q +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2466767	NM_001297654.2(DDR1):c.2119G>A (p.Gly707Ser)	DDR1 (G676S +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3080815	NM_001297654.2(DDR1):c.2136C>A (p.Phe712Leu)	DDR1 (F681L +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2261401	NM_001297654.2(DDR1):c.2158G>A (p.Asp720Asn)	DDR1 (D683N +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 782946	NM_001297654.2(DDR1):c.2214C>T (p.Ile738=)	DDR1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2341836	NM_001297654.2(DDR1):c.2247G>C (p.Gln749His)	DDR1 (Q749H +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2258999	NM_001297654.2(DDR1):c.2263C>T (p.Arg755Cys)	DDR1 (R736C +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3080816	NM_001297654.2(DDR1):c.2468C>G (p.Ala823Gly)	DDR1 (A792G +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3080817	NM_001297654.2(DDR1):c.2482G>T (p.Ala828Ser)	DDR1 (A834S +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3080818	NM_001297654.2(DDR1):c.2506G>A (p.Val836Met)	DDR1 (V805M +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3024726	NM_001297654.2(DDR1):c.2602-4G>A	DDR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3080819	NM_001297654.2(DDR1):c.2668C>T (p.Arg890Trp)	DDR1 (R744W +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2227412	NM_001297654.2(DDR1):c.2684G>A (p.Arg895Gln)	DDR1 (R749Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266443	NM_001297654.2(DDR1):c.2732A>G (p.Asn911Ser)	DDR1 (N765S +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2552612	NM_001297654.2(DDR1):c.2735C>T (p.Thr912Met)	DDR1 (T881M +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3062937	GRCh37/hg19 6p21.33(chr6:30629521-30962674)x3	DDR1, DHX16 +11 more	Copy number gain	not specified	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2424220	NC_000006.11:g.(?_30695893)_(31937492_?)dup	ABHD16A, AIF1 +63 more	Duplication	not provided	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 395628	GRCh37/hg19 6p21.33(chr6:30860807-30957425)x3	DDR1, GTF2H4 +4 more	Copy number gain	See cases	GUncertain significance
Select item 221455	GRCh37/hg19 6p21.33(chr6:30698482-30853003)x3	DDR1, FLOT1 +1 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 58